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<meta name="description" content="Mutations in CHRNE encoding the epsilon subunit of acetylcholine receptor result in impaired neuromuscular transmission and congenital myasthenic syndrome (CMS) with variying severity of symptoms. Although the pathophysiology is well-known, blood biomarker signatures enabling a patient-stratificatio …"><meta name="keywords" content="pmid:39948634, PMC11823195, doi:10.1186/s40478-025-01946-9, Multicenter Study, Adela Della Marina, Andrie Koutsoulidou, Andreas Roos, Adolescent, Adult, Biomarkers* / blood, Child, Child, Preschool, Cohort Studies, Female, Humans, Leukocytes / metabolism, Male, MicroRNAs / blood, MicroRNAs / genetics, Myasthenic Syndromes, Congenital* / blood, Myasthenic Syndromes, Congenital* / genetics, Proteomics, Receptors, Nicotinic / genetics, Retrospective Studies, Young Adult, PubMed Abstract, NIH, NLM, NCBI, National Institutes of Health, National Center for Biotechnology Information, National Library of Medicine, MEDLINE"><meta name="robots" content="index,nofollow,noarchive"><meta property="og:title" content="Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome - PubMed"><meta property="og:url" content="https://pubmed.ncbi.nlm.nih.gov/39948634/"><meta property="og:description" content="Mutations in CHRNE encoding the epsilon subunit of acetylcholine receptor result in impaired neuromuscular transmission and congenital myasthenic syndrome (CMS) with variying severity of symptoms. Although the pathophysiology is well-known, blood biomarker signatures enabling a patient-stratificatio …"><meta property="og:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:image:secure_url" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:type" content="website"><meta property="og:site_name" content="PubMed"><meta name="twitter:domain" content="pubmed.ncbi.nlm.nih.gov"><meta name="twitter:card" content="summary_large_image"><meta name="twitter:title" content="Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome - PubMed"><meta name="twitter:url" content="https://pubmed.ncbi.nlm.nih.gov/39948634/"><meta name="twitter:description" content="Mutations in CHRNE encoding the epsilon subunit of acetylcholine receptor result in impaired neuromuscular transmission and congenital myasthenic syndrome (CMS) with variying severity of symptoms. Although the pathophysiology is well-known, blood biomarker signatures enabling a patient-stratificatio …"><meta name="twitter:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg">
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<meta name="citation_title" content="Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome">
<meta name="citation_authors" content="Della Marina A;Koutsoulidou A;Natera-de Benito D;Tykocinski LO;Tomazou M;Georgiou K;Laner A;Kölbel H;Nascimento A;Ortez C;Abicht A;Thakur BK;Lochmüller H;Phylactou LA;Ruck T;Schara-Schmidt U;Kale D;Hentschel A;Roos A;">
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<option value="summary-text">Summary (text)</option>
<option value="abstract">Abstract</option>
<option value="abstract-text">Abstract (text)</option>
</select>
</div>
<div class="include-supplemental-container">
<input type="checkbox" aria-label="Include MeSH and other data" name="include-supplemental" id="email-include-supplemental" class="email-include-supplemental">
<label for="email-include-supplemental" class="email-include-supplemental-label">MeSH and other data</label>
</div>
<div class="form-field recaptcha ">
<div class="g-recaptcha" id="id-recaptcha" data-sitekey="6LfsWHMdAAAAAClKbtOpjQ2pMjgsGxvv7NdZW9uI"></div>
</div>
<div id="captcha-error-message" class="usa-input-error-message captcha-validation-message" role="alert"></div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Sending..."
data-ga-category="save_share"
data-ga-action="email"
data-ga-label="send">
Send email
</button>
<button class="action-panel-cancel"
aria-label="Close 'Email citations' panel"
ref="linksrc=close_email_panel"
aria-controls="email-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="email"
data-ga-label="cancel">
Cancel
</button>
</div>
<input type="hidden" name="email-search-details" value="" />
<input type="hidden" name="email-search-details-hash" value="0e42663a6c3bd85498fcb88798998fed7bfdc45d457db35281e41afe13cc0524" />
</form>
</div>
</div>
<div id="collections-action-panel"
class="collections-action-panel action-panel in-progress-dots-panel"
aria-hidden="true"
data-collections-open-panel-enabled="false"
data-collections-open-panel-url-hash="#open-collections-panel">
<div class="inner-wrap">
<h3 class="action-panel-heading">
Add to Collections
</h3>
<form id="collections-action-panel-form"
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
data-existing-collections-url="/list-existing-collections/"
data-add-to-existing-collection-url="/add-to-existing-collection/"
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
data-myncbi-max-collection-name-length="100"
data-add-to-collection-max-amount="1000"
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/">
<input type="hidden" name="csrfmiddlewaretoken" value="ByEbOtXp0kVA8ozWOtfgUhaGavF4AodfSlogrjqLAVI42PFMrMSiopGkIzngtZLz">
<div class="choice-group" role="radiogroup">
<ul class="radio-group-items">
<li>
<input type="radio"
id="collections-action-panel-new"
class="collections-new"
name="collections"
value="new"
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="collections_radio_new">
<label for="collections-action-panel-new">Create a new collection</label>
</li>
<li>
<input type="radio"
id="collections-action-panel-existing"
class="collections-existing"
name="collections"
value="existing"
checked="true"
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="collections_radio_existing">
<label for="collections-action-panel-existing">Add to an existing collection</label>
</li>
</ul>
</div>
<div class="controls-wrapper">
<div class="action-panel-control-wrap new-collections-controls">
<label for="collections-action-panel-add-to-new" class="action-panel-label required-field-asterisk">
Name your collection:
</label>
<input
type="text"
name="add-to-new-collection"
id="collections-action-panel-add-to-new"
class="collections-action-add-to-new"
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"
maxlength="100"
data-ga-category="save_share"
data-ga-action="create_collection"
data-ga-label="non_favorties_collection">
<div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
Name must be less than 100 characters
</div>
</div>
<div class="action-panel-control-wrap existing-collections-controls">
<label for="collections-action-panel-add-to-existing" class="action-panel-label">
Choose a collection:
</label>
<select id="collections-action-panel-add-to-existing"
class="action-panel-selector collections-action-add-to-existing"
data-ga-category="save_share"
data-ga-action="select_collection"
data-ga-label="($('#collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'">
</select>
<div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
Unable to load your collection due to an error<br>
<a href="#">Please try again</a>
</div>
</div>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Adding..."
data-pinger-ignore
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="add">
Add
</button>
<button class="action-panel-cancel"
aria-label="Close 'Add to Collections' panel"
ref="linksrc=close_collections_panel"
aria-controls="collections-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="bibliography-action-panel"
class="bibliography-action-panel action-panel in-progress-dots-panel"
aria-hidden="true"
data-bibliography-open-panel-enabled="false"
data-bibliography-open-panel-url-hash="#open-bibliography-panel">
<div class="inner-wrap">
<h3 class="action-panel-heading">
Add to My Bibliography
</h3>
<form id="bibliography-action-panel-form"
class="bibliography-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
data-add-to-bibliography-max-amount="100"
data-add-to-bibliography-batch-size="10"
data-bibliography-delegates-url="/list-bibliography-delegates/"
data-add-to-bibliography-url="/add-to-bibliography/"
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
data-mybib-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/mybibliography/">
<input type="hidden" name="csrfmiddlewaretoken" value="ByEbOtXp0kVA8ozWOtfgUhaGavF4AodfSlogrjqLAVI42PFMrMSiopGkIzngtZLz">
<div class="action-panel-control-wrap bibliographies-controls">
<div class="choice-group">
<ul class="bibliographies-action-add radio-group-items">
<li>
<input name="bibliography" id="my-bibliography" class="my-bibliography" type="radio" checked/>
<label for="my-bibliography">My Bibliography</label>
</li>
</ul>
</div>
</div>
<div class="bibliographies-retry-load-on-error usa-input-error-message selection-validation-message">
Unable to load your delegates due to an error<br>
<a href="#">Please try again</a>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Adding..."
data-pinger-ignore>
Add
</button>
<button class="action-panel-cancel"
aria-label="Close 'Add to bibliography' panel"
ref="linksrc=close_bibliography_panel"
aria-controls="bibliography-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="mybib"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="saved-search-action-panel" class="saved-search-action-panel action-panel " aria-hidden="true"
data-saved-search-open-panel-enabled="false"
data-saved-search-open-panel-url-hash="#open-saved-search-panel">
<div class="inner-wrap">
<h2 class="action-panel-heading">
Your saved search
</h2>
<form id="saved-search-action-panel-form"
class="saved-search-action-panel-form action-panel-content action-form"
data-create-saved-search-url="/create-saved-search/"
data-try-search-terms-url="/try-search-term/"
data-saved-search-root-url="https://www.ncbi.nlm.nih.gov/myncbi/searches/">
<input type="hidden" name="csrfmiddlewaretoken" value="ByEbOtXp0kVA8ozWOtfgUhaGavF4AodfSlogrjqLAVI42PFMrMSiopGkIzngtZLz">
<div class="action-panel-control-wrap">
<label for="saved-search-name" class="action-panel-label saved-search-name-label required-field-asterisk">
Name of saved search:
</label>
<input maxlength="200"
type="text"
name="saved-search-name"
id="saved-search-name"
class="saved-search-name"
value=""
required
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/">
</div>
<div class="action-panel-control-wrap">
<label for="saved-search-term" class="action-panel-label required-field-asterisk">
Search terms:
</label>
<textarea name="saved-search-term" id="saved-search-term" class="saved-search-term" required></textarea>
</div>
<div class="test-search-term-wrap">
<a href="#" class="try-search-term">Test search terms</a>
</div>
<div class="choice-group action-panel-extra-margin-top">
<span class="action-panel-label" id="fieldset-label">
Would you like email updates of new search results?
</span>
<fieldset id="saved-search-alert" aria-describedby="fieldset-label">
<legend class="usa-sr-only">Saved Search Alert Radio Buttons</legend>
<ul class="radio-group-items">
<li>
<input type="radio" id="saved-search-alert-yes" class="saved-search-alert-yes" name="saved-search-alert" value="yes" checked>
<label for="saved-search-alert-yes" class="action-panel-label">Yes</label>
</li>
<li>
<input aria-label="No radio input" type="radio" id="saved-search-alert-no" class="saved-search-alert-no" name="saved-search-alert" value="no">
<label for="saved-search-alert-no" class="action-panel-label">No</label>
</li>
</ul>
</fieldset>
</div>
<div class="alert-schedule-wrap">
<div class="action-panel-control-wrap">
<label class="action-panel-label">
Email:
</label>
<span aria-label="Email address" id="saved-search-email" class="action-panel-label"><span class="action-panel-label-bold"></span> (<a class="myncbi-account-settings" href="https://www.ncbi.nlm.nih.gov/account/settings/">change</a>)</span>
</div>
<div class="action-panel-control-wrap action-panel-extra-margin-top">
<label for="saved-search-frequency" class="action-panel-label">
Frequency:
</label>
<select id="saved-search-frequency" class="no-border-panel-selector saved-search-frequency">
<option value="monthly">Monthly</option>
<option value="weekly">Weekly</option>
<option value="daily">Daily</option>
</select>
</div>
<div class="action-panel-control-wrap saved-search-monthly-additional">
<label for="saved-search-monthly-on-day" class="action-panel-label">
Which day?
</label>
<select id="saved-search-monthly-on-day" class="no-border-panel-selector">
<option value="Sunday">The first Sunday</option>
<option value="Monday">The first Monday</option>
<option value="Tuesday">The first Tuesday</option>
<option value="Wednesday">The first Wednesday</option>
<option value="Thursday">The first Thursday</option>
<option value="Friday">The first Friday</option>
<option value="Saturday">The first Saturday</option>
<option value="day">The first day</option>
<option value="weekday">The first weekday</option>
</select>
</div>
<div class="action-panel-control-wrap saved-search-weekly-additional">
<label for="saved-search-weekly-on-day" class="action-panel-label">
Which day?
</label>
<select id="saved-search-weekly-on-day" class="no-border-panel-selector saved-search-weekly-on-day">
<option value="Sunday">Sunday</option>
<option value="Monday">Monday</option>
<option value="Tuesday">Tuesday</option>
<option value="Wednesday">Wednesday</option>
<option value="Thursday">Thursday</option>
<option value="Friday">Friday</option>
<option value="Saturday">Saturday</option>
</select>
</div>
<div class="action-panel-control-wrap">
<label for="saved-search-report" class="action-panel-label">
Report format:
</label>
<select id="saved-search-report" class="no-border-panel-selector saved-search-report">
<option value="DocSum">Summary</option>
<option value="DocSumText">Summary (text)</option>
<option value="Abstract">Abstract</option>
<option value="AbstractText">Abstract (text)</option>
<option value="MEDLINE">PubMed</option>
</select>
</div>
<div class="action-panel-control-wrap">
<label for="saved-search-amount" class="action-panel-label">
Send at most:
</label>
<select id="saved-search-amount" class="no-border-panel-selector saved-search-amount">
<option value="1">1 item</option>
<option value="5" selected>5 items</option>
<option value="10">10 items</option>
<option value="20">20 items</option>
<option value="50">50 items</option>
<option value="100">100 items</option>
<option value="200">200 items</option>
</select>
</div>
<div>
<input type="checkbox" id="saved-search-send-if-no-result" class="saved-search-send-if-no-result" name="saved-search-send-if-no-result">
<label for="saved-search-send-if-no-result" class="action-panel-label smaller-checkbox">
Send even when there aren't any new results
</label>
</div>
<div class="action-panel-control-wrap option-text-in-email-wrap">
<label for="saved-search-email-text" class="action-panel-label">
Optional text in email:
</label>
<textarea name="saved-search-email-text"
id="saved-search-email-text"
class="saved-search-email-text"></textarea>
</div>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Saving..."
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="save">
Save
</button>
<button class="action-panel-cancel"
aria-label="Close 'Your saved search' panel"
ref="linksrc=close_saved_search_panel"
aria-controls="saved-search-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="citation-manager-action-panel" class="citation-manager-action-panel action-panel" aria-hidden="true">
<div class="inner-wrap">
<h2 class="action-panel-heading">
Create a file for external citation management software
</h2>
<form id="citation-manager-action-panel-form"
class="action-panel-content action-form"
action="/results-export-ids/"
data-by-search-action="/results-export-search-data/"
data-by-ids-action="/results-export-ids/"
method="post"
data-by-search-method="post"
data-by-ids-method="post">
<input type="hidden" name="csrfmiddlewaretoken" value="ByEbOtXp0kVA8ozWOtfgUhaGavF4AodfSlogrjqLAVI42PFMrMSiopGkIzngtZLz">
<input name="results-format" type="hidden" value="pubmed"/>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Sending..."
data-ga-category="save_share"
data-ga-action="citation_manager"
data-ga-label="save">
Create file
</button>
<button class="action-panel-cancel"
aria-label="Close 'Send citations to citation manager' panel"
ref="linksrc=close_citation_manager_panel"
aria-controls="citation-manager-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="citation_manager"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="rss-action-panel" class="rss-action-panel action-panel " aria-hidden="true">
<div class="inner-wrap">
<h2 class="action-panel-heading">
Your RSS Feed
</h2>
<form id="rss-action-panel-form"
class="rss-action-panel-form action-panel-content action-form"
data-create-rss-feed-url="/create-rss-feed-url/"
data-search-form-term-value="">
<input type="hidden" name="csrfmiddlewaretoken" value="ByEbOtXp0kVA8ozWOtfgUhaGavF4AodfSlogrjqLAVI42PFMrMSiopGkIzngtZLz">
<div class="action-panel-control-wrap">
<label for="rss-name" class="action-panel-label required-field-asterisk">
Name of RSS Feed:
</label>
<input maxlength="200"
placeholder="Name"
type="text"
name="rss-name"
id="rss-name"
class="rss-name"
value=''
required
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/">
</div>
<div class="rss-limit-wrap">
<div class="action-panel-control-wrap action-panel-extra-margin-top">
<label for="rss-limit" class="action-panel-label">
Number of items displayed:
</label>
<select id="rss-limit" class="no-border-panel-selector rss-limit">
<option value="5">5</option>
<option value="10">10</option>
<option value="15" selected="selected">15</option>
<option value="20">20</option>
<option value="50">50</option>
<option value="100">100</option>
</select>
</div>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Creating..."
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="save">
Create RSS
</button>
<button class="action-panel-cancel"
aria-label="Close 'Your RSS' panel"
ref="linksrc=close_rss_panel"
aria-controls="rss-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="cancel">
Cancel
</button>
</div>
<div class="action-panel-control-wrap rss-link-copy-wrap">
<label for="rss-link" class="usa-sr-only">RSS Link</label>
<input placeholder="Your RSS Feed Link" type="text" name="rss-link" id="rss-link" class="rss-link" title="RSS Link">
<button
type="button"
disabled
class="rss-link-copy-button disabled"
data-ga-category="save_share"
data-ga-action="rss"
data-ga-label="copy">
Copy
</button>
</div>
</form>
</div>
</div>
</div>
</div>
<div class="article-page" id="article-page" data-article-pmid="39948634">
<aside class="page-sidebar">
<div class="inner-wrap">
<div class="full-text-links">
<div class="full-view">
<h3 class="title">
Full text links
</h3>
<div class="full-text-links-list">
<a class="link-item
dialog-focus"
href="https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-025-01946-9"
target="_blank"
rel="noopener"
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rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&is_pmc=True&PrId=3494&itool=Abstract-def&log$=linkouticon&uid=39948634&db=pubmed&nlmid=101610673"
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data-ga-category="full_text"
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<div class="short-view">
<a href="#" class="full-text-links-button full-text-links-dialog-trigger">
Full text links
</a>
</div>
</div>
<div class="actions-buttons sidebar"><h3 class="title">Actions</h3><div class="inner-wrap"><button class="citation-button citation-dialog-trigger"
aria-label="Open dialog with citation text in different styles"
data-ga-category="save_share"
data-ga-action="cite"
data-ga-label="open"
data-all-citations-url="/39948634/citations/"
data-citation-style="nlm"
data-pubmed-format-link="/39948634/export/"><span class="button-label">Cite</span></button><link type="text/css" href="ncbi-overlay-block/src/overlay-block.css"><div class="collections-button-container" data-article-id="39948634" data-article-db="pubmed"><button class="collections-button collections-dialog-trigger"
aria-label="Save article in MyNCBI collections."
data-ga-category="collections_button"
data-ga-action="click"
data-ga-label="collections_button"
data-collections-open-dialog-enabled="false"
data-collections-open-dialog-url="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F39948634%2F%23open-collections-dialog"
data-in-collections="false"><span class="button-label">Collections</span></button><div class="overlay" role="dialog"><div id="collections-action-dialog"
class="dialog collections-dialog"
aria-hidden="true"><div class="title">Add to Collections</div><div class="collections-action-panel action-panel"><form id="collections-action-dialog-form"
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
data-existing-collections-url="/list-existing-collections/"
data-add-to-existing-collection-url="/add-to-existing-collection/"
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
data-myncbi-max-collection-name-length="100"
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/"><input type="hidden" name="csrfmiddlewaretoken" value="ByEbOtXp0kVA8ozWOtfgUhaGavF4AodfSlogrjqLAVI42PFMrMSiopGkIzngtZLz"><div class="choice-group" role="radiogroup"><ul class="radio-group-items"><li><input type="radio"
id="collections-action-dialog-new"
class="collections-new"
name="collections"
value="new"
data-ga-category="collections_button"
data-ga-action="click"
data-ga-label="collections_radio_new"><label for="collections-action-dialog-new">Create a new collection</label></li><li><input type="radio"
id="collections-action-dialog-existing"
class="collections-existing"
name="collections"
value="existing"
checked="true"
data-ga-category="collections_button"
data-ga-action="click"
data-ga-label="collections_radio_existing"><label for="collections-action-dialog-existing">Add to an existing collection</label></li></ul></div><div class="controls-wrapper"><div class="action-panel-control-wrap new-collections-controls"><label for="collections-action-dialog-add-to-new" class="action-panel-label required-field-asterisk">
Name your collection:
</label><input
type="text"
name="add-to-new-collection"
id="collections-action-dialog-add-to-new"
class="collections-action-add-to-new"
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"
maxlength="100"
data-ga-category="collections_button"
data-ga-action="create_collection"
data-ga-label="non_favorties_collection"><div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
Name must be less than 100 characters
</div></div><div class="action-panel-control-wrap existing-collections-controls"><label for="collections-action-dialog-add-to-existing" class="action-panel-label">
Choose a collection:
</label><select id="collections-action-dialog-add-to-existing"
class="action-panel-selector collections-action-add-to-existing"
data-ga-category="collections_button"
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<h1 class="heading-title">
Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome
</h1>
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><sup class="key">2</sup> Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.</li>
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id="full-view-affiliation-3"
><sup class="key">3</sup> Neuromuscular Unit, Department of Neurology, Sant Joan de Deu Hospital, Barcelona, Spain.</li>
<li data-affiliation-id="full-view-affiliation-4"
id="full-view-affiliation-4"
><sup class="key">4</sup> Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.</li>
<li data-affiliation-id="full-view-affiliation-5"
id="full-view-affiliation-5"
><sup class="key">5</sup> Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain.</li>
<li data-affiliation-id="full-view-affiliation-6"
id="full-view-affiliation-6"
><sup class="key">6</sup> Department of Hematology, Oncology and Rheumatology, Internal Medicine V, Medical Faculty, University Hospital Heidelberg, Heidelberg, Germany.</li>
<li data-affiliation-id="full-view-affiliation-7"
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><sup class="key">7</sup> Department of Bioinformatics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.</li>
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id="full-view-affiliation-8"
><sup class="key">8</sup> Medical Genetics Center, Munich, Germany.</li>
<li data-affiliation-id="full-view-affiliation-9"
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><sup class="key">9</sup> Department of Pediatric Neurology, Center for Neuromuscular Disorders in Children and Adolescents, University Hospital Essen, University Duisburg-Essen, Essen, Germany.</li>
<li data-affiliation-id="full-view-affiliation-10"
id="full-view-affiliation-10"
><sup class="key">10</sup> Friedrich-Baur Institute, Ludwig Maximilian University, Munich, Germany.</li>
<li data-affiliation-id="full-view-affiliation-11"
id="full-view-affiliation-11"
><sup class="key">11</sup> Cancer Exosome Research Lab, Department of Pediatric Hematology and Oncology, University Hospital Essen, Essen, Germany.</li>
<li data-affiliation-id="full-view-affiliation-12"
id="full-view-affiliation-12"
><sup class="key">12</sup> Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.</li>
<li data-affiliation-id="full-view-affiliation-13"
id="full-view-affiliation-13"
><sup class="key">13</sup> Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.</li>
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><sup class="key">14</sup> Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada.</li>
<li data-affiliation-id="full-view-affiliation-15"
id="full-view-affiliation-15"
><sup class="key">15</sup> Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.</li>
<li data-affiliation-id="full-view-affiliation-16"
id="full-view-affiliation-16"
><sup class="key">16</sup> Department of Neurology, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany.</li>
<li data-affiliation-id="full-view-affiliation-17"
id="full-view-affiliation-17"
><sup class="key">17</sup> Department of Neurology, BG & Heimer Institute for Muscle Research, University-Hospital Bergmannsheil Bochum, Ruhr-University, Bochum, Germany.</li>
<li data-affiliation-id="full-view-affiliation-18"
id="full-view-affiliation-18"
><sup class="key">18</sup> Leibniz-Institut für Analytische Wissenschaften -ISAS- e.V, Dortmund, Germany.</li>
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<div class="publication-type" >Multicenter Study</div>
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Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome
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<span class="authors-list-item "><span class="full-name">Adela Della Marina</span><span class="citation-separator"> et al.</span></span>
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<span class="authors-list-item "><a class="full-name"
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data-ga-label="Adela Della Marina">Adela Della Marina</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatric Neurology, Center for Neuromuscular Disorders in Children and Adolescents, University Hospital Essen, University Duisburg-Essen, Essen, Germany. adela.dellamarina@uk-essen.de." href="#short-view-affiliation-1" ref="linksrc=author_aff">
1
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Andrie Koutsoulidou">Andrie Koutsoulidou</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus." href="#short-view-affiliation-2" ref="linksrc=author_aff">
2
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Daniel Natera-de Benito">Daniel Natera-de Benito</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Neuromuscular Unit, Department of Neurology, Sant Joan de Deu Hospital, Barcelona, Spain." href="#short-view-affiliation-3" ref="linksrc=author_aff">
3
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain." href="#short-view-affiliation-4" ref="linksrc=author_aff">
4
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain." href="#short-view-affiliation-5" ref="linksrc=author_aff">
5
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Lars-Oliver Tykocinski">Lars-Oliver Tykocinski</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Hematology, Oncology and Rheumatology, Internal Medicine V, Medical Faculty, University Hospital Heidelberg, Heidelberg, Germany." href="#short-view-affiliation-6" ref="linksrc=author_aff">
6
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Marios Tomazou">Marios Tomazou</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Bioinformatics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus." href="#short-view-affiliation-7" ref="linksrc=author_aff">
7
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Kristia Georgiou">Kristia Georgiou</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus." href="#short-view-affiliation-2" ref="linksrc=author_aff">
2
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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8
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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9
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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3
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain." href="#short-view-affiliation-4" ref="linksrc=author_aff">
4
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain." href="#short-view-affiliation-5" ref="linksrc=author_aff">
5
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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3
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain." href="#short-view-affiliation-4" ref="linksrc=author_aff">
4
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain." href="#short-view-affiliation-5" ref="linksrc=author_aff">
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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8
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Friedrich-Baur Institute, Ludwig Maximilian University, Munich, Germany." href="#short-view-affiliation-10" ref="linksrc=author_aff">
10
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Basant Kumar Thakur">Basant Kumar Thakur</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Cancer Exosome Research Lab, Department of Pediatric Hematology and Oncology, University Hospital Essen, Essen, Germany." href="#short-view-affiliation-11" ref="linksrc=author_aff">
11
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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12
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada." href="#short-view-affiliation-13" ref="linksrc=author_aff">
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada." href="#short-view-affiliation-14" ref="linksrc=author_aff">
14
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain." href="#short-view-affiliation-15" ref="linksrc=author_aff">
15
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Leonidas A Phylactou">Leonidas A Phylactou</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus." href="#short-view-affiliation-2" ref="linksrc=author_aff">
2
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Tobias Ruck">Tobias Ruck</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neurology, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany." href="#short-view-affiliation-16" ref="linksrc=author_aff">
16
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neurology, BG & Heimer Institute for Muscle Research, University-Hospital Bergmannsheil Bochum, Ruhr-University, Bochum, Germany." href="#short-view-affiliation-17" ref="linksrc=author_aff">
17
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Ulrike Schara-Schmidt">Ulrike Schara-Schmidt</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatric Neurology, Center for Neuromuscular Disorders in Children and Adolescents, University Hospital Essen, University Duisburg-Essen, Essen, Germany." href="#short-view-affiliation-9" ref="linksrc=author_aff">
9
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Kale+D&cauthor_id=39948634"
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data-ga-label="Dipali Kale">Dipali Kale</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Leibniz-Institut für Analytische Wissenschaften -ISAS- e.V, Dortmund, Germany." href="#short-view-affiliation-18" ref="linksrc=author_aff">
18
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Hentschel+A&cauthor_id=39948634"
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data-ga-label="Andreas Hentschel">Andreas Hentschel</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Leibniz-Institut für Analytische Wissenschaften -ISAS- e.V, Dortmund, Germany." href="#short-view-affiliation-18" ref="linksrc=author_aff">
18
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Roos+A&cauthor_id=39948634"
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data-ga-label="Andreas Roos">Andreas Roos</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatric Neurology, Center for Neuromuscular Disorders in Children and Adolescents, University Hospital Essen, University Duisburg-Essen, Essen, Germany." href="#short-view-affiliation-9" ref="linksrc=author_aff">
9
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada." href="#short-view-affiliation-12" ref="linksrc=author_aff">
12
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neurology, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany." href="#short-view-affiliation-16" ref="linksrc=author_aff">
16
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<h3 class="title">
Affiliations
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<li data-affiliation-id="short-view-affiliation-1"
id="short-view-affiliation-1"
><sup class="key">1</sup> Department of Pediatric Neurology, Center for Neuromuscular Disorders in Children and Adolescents, University Hospital Essen, University Duisburg-Essen, Essen, Germany. adela.dellamarina@uk-essen.de.</li>
<li data-affiliation-id="short-view-affiliation-2"
id="short-view-affiliation-2"
><sup class="key">2</sup> Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.</li>
<li data-affiliation-id="short-view-affiliation-3"
id="short-view-affiliation-3"
><sup class="key">3</sup> Neuromuscular Unit, Department of Neurology, Sant Joan de Deu Hospital, Barcelona, Spain.</li>
<li data-affiliation-id="short-view-affiliation-4"
id="short-view-affiliation-4"
><sup class="key">4</sup> Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.</li>
<li data-affiliation-id="short-view-affiliation-5"
id="short-view-affiliation-5"
><sup class="key">5</sup> Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain.</li>
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><sup class="key">6</sup> Department of Hematology, Oncology and Rheumatology, Internal Medicine V, Medical Faculty, University Hospital Heidelberg, Heidelberg, Germany.</li>
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><sup class="key">7</sup> Department of Bioinformatics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.</li>
<li data-affiliation-id="short-view-affiliation-8"
id="short-view-affiliation-8"
><sup class="key">8</sup> Medical Genetics Center, Munich, Germany.</li>
<li data-affiliation-id="short-view-affiliation-9"
id="short-view-affiliation-9"
><sup class="key">9</sup> Department of Pediatric Neurology, Center for Neuromuscular Disorders in Children and Adolescents, University Hospital Essen, University Duisburg-Essen, Essen, Germany.</li>
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id="short-view-affiliation-10"
><sup class="key">10</sup> Friedrich-Baur Institute, Ludwig Maximilian University, Munich, Germany.</li>
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id="short-view-affiliation-11"
><sup class="key">11</sup> Cancer Exosome Research Lab, Department of Pediatric Hematology and Oncology, University Hospital Essen, Essen, Germany.</li>
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id="short-view-affiliation-12"
><sup class="key">12</sup> Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.</li>
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><sup class="key">13</sup> Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.</li>
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id="short-view-affiliation-14"
><sup class="key">14</sup> Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada.</li>
<li data-affiliation-id="short-view-affiliation-15"
id="short-view-affiliation-15"
><sup class="key">15</sup> Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.</li>
<li data-affiliation-id="short-view-affiliation-16"
id="short-view-affiliation-16"
><sup class="key">16</sup> Department of Neurology, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany.</li>
<li data-affiliation-id="short-view-affiliation-17"
id="short-view-affiliation-17"
><sup class="key">17</sup> Department of Neurology, BG & Heimer Institute for Muscle Research, University-Hospital Bergmannsheil Bochum, Ruhr-University, Bochum, Germany.</li>
<li data-affiliation-id="short-view-affiliation-18"
id="short-view-affiliation-18"
><sup class="key">18</sup> Leibniz-Institut für Analytische Wissenschaften -ISAS- e.V, Dortmund, Germany.</li>
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<p>
Mutations in CHRNE encoding the epsilon subunit of acetylcholine receptor result in impaired neuromuscular transmission and congenital myasthenic syndrome (CMS) with variying severity of symptoms. Although the pathophysiology is well-known, blood biomarker signatures enabling a patient-stratification are lacking. This retrospective two-center-study includes 19 recessive CHRNE-patients (AChR deficiency; mean age 14.8 years) from 13 families which were clinically characterized according to disease severity. 15 patients were classified as mildly and 4 patients as moderate to severely affected. Seven known pathogenic and one unreported variant (c.1032 + 2_1032 + 3delinsGT) were identified. Biomarker discovery was carried out on blood samples: proteomics was performed on white blood cells (WBC; n = 12) and on extracellular vesicles (EV) purified from serum samples (n = 7) in addition to amino acid profiling (n = 9) and miRNA screening (n = 18). For miRNA studies, 7 patients with other CMS-subtypes were moreover included. WBC-proteomics unveiled a significant increase of 7 and a decrease of 36 proteins. In silico studies of these proteins indicated affection of secretory granules and the extracellular space. Comparison across patients unveiled increase of two vesicular transport proteins (SCAMP2 and SNX2) in severely affected patients and indeed EV-proteomics revealed increase of 7 and decrease of 13 proteins. Three of these proteins (TARSH, ATRN & PLEC) are known to be important for synaptogenesis and synaptic function. Metabolomics showed decrease of seven amino acids/ amino acid metabolites (aspartic and glutamic acids, phosphoserine, amino adipate, citrulline, ornithine, and 1-methyhistidine). miRNA-profiling showed increase miR - 483 - 3p, miR-365a-3p, miR - 365b - 3p and miR-99a, and decrease of miR-4433b-3p, miR-6873-3p, miR-182-5p and let-7b-5p in CHRNE-patients whereas a comparison with other CMS subtypes showed increase of miR - 205 - 5p, miR - 10b - 5p, miR-125a-5p, miR-499-5p, miR-3120-5p and miR - 483 - 5p and decrease of miR - 1290. Our combined data introduce a molecular fingerprint on protein, metabolic and miRNA level with some of those playing different roles along the neuromuscular axis.
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Keywords:
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CMS biomarkers; CMS extracellular vesicles; CMS metabolites; CMS miRNA; CMS white blood cells.
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<p xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:p1="http://pubmed.gov/pub-one">Declarations. Ethics approval and consent to participate: Our study was approved by the ethical committee of the University Hospital Duisburg-Essen (19-9011-BO) and for Spanish patients by ethical comitee of the Institut de Recerca Sant Joan de Deu (PIC-147-23). The study was conducted in accordance with the principles of the Declaration of Helsinki. Consent for publication: All participians or their representatives have given consent for publication of their clinical data as part of the above named studies. Competing interests: The authors declare no competing interests.</p>
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<div class="figure-caption-contents"><p> Schematic overview of distribution of <i> CHRNE </i> -variants identified in our patients across the… </p></div>
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<div class="figure-caption-contents">Schematic overview of distribution of <i>CHRNE</i>-variants identified in our patients across the protein structure. Protter: interactive protein feature visualization and integration with experimental proteomic data [46]</div>
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<div class="figure-caption-contents"><p> Study of protein signature of… </p></div>
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<div class="figure-caption-contents"><p> Study of protein signature of white blood cells derived from <i> CHRNE </i> -patients. (… </p></div>
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<div class="figure-caption-contents">Study of protein signature of white blood cells derived from <i>CHRNE</i>-patients. (<b>a</b>) Schematic representation of proteomic workflow applied on white blood cells derived from <i>CHRNE</i>-patients and healthy controls. (<b>b</b>) Proteingenic changes are shown in the heatmap on the individual protein level. (<b>c</b>) Volcano plot depicting statistically significant dysregulated proteins in white blood cells of <i>CHRNE</i>-patients. Increased proteins are represented by purple dots wereas decreased proteins are represented by organge dots. (<b>d</b>) GO-term based in silico analysis of pathways affected by protein dysregulations affected by upregaulated and downregulated proteins, respectively. (<b>e</b>) Box plots highlighting the increase of SCAMP2 and SNX2 as two proteins relevant for vesicular transport in cells derived from <i>CHRNE</i>-patients compared to controls</div>
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<div class="figure-caption-contents"><p> Study of EVs purified from blood derived of <i> CHRNE </i> -related CMS patients. (… </p></div>
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<div class="figure-caption-contents">Study of EVs purified from blood derived of <i>CHRNE</i>-related CMS patients. (<b>a</b>) Characterization of EVs purified from sera derived from CMS-patients and age-matched controls including determination of size, protein concentration number per 500 µl and total protein amount. (<b>b</b>) Schematic representation of proteomic workflow applied on EVs derived from CMS patients and healthy controls. (<b>c</b>) Volcano plot depicting statistically significant dysregulated proteins in EVs of <i>CHRNE</i>-patients. Increased proteins are represented by purple dots wereas decreased proteins are represented by organge dots. (<b>d</b>) Venn diagram showing overlaps of dysregulated EV proteins across the different CMS subtypes. (<b>e</b>) Box plots depicting TARSH, ATRN and PLEC as three proteins of major interest in addition to ANK3, LAMC1 and FHOD1 dysregulated in EVs of <i>CHRNE</i>-patients. No changes of these proteins were noted between patients with and without intellectual disability</div>
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<div class="figure-caption-contents"><p> Study of metabolic status in… </p></div>
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<div class="figure-caption-contents"><p> Study of metabolic status in sera derived from <i> CHRNE </i> -patients. Mass spectrometry unveils… </p></div>
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<div class="figure-caption-contents">Study of metabolic status in sera derived from <i>CHRNE</i>-patients. Mass spectrometry unveils statistically significant decrease of aspartic and glutamic acids, phosphoserine, amino adipate, citrulline, ornithine & 1-methyhistidine</div>
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<div class="figure-caption-contents"><p> Differentially expressed miRNAs (DEmiRNAs) between… </p></div>
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<p> Fig. 5 </p>
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<div class="figure-caption-contents"><p> Differentially expressed miRNAs (DEmiRNAs) between <i> CHRNE </i> -patients, other CMS subtype patients and healthy… </p></div>
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<div class="figure-caption-contents">Differentially expressed miRNAs (DEmiRNAs) between <i>CHRNE</i>-patients, other CMS subtype patients and healthy controls. Volcanos and heatmaps of the top DEmiRNAs based on the adjusted <i>p value</i> (< 0.05) for (<b>a</b>) <i>CHRNE</i>-patients versus controls and (<b>b</b>) <i>CHRNE</i>-patients versus other CMS subtypes. In heatmaps, the <i>CHRNE</i> group is shown in red colour, the control group (healthy individuals) is shown in blue colour and the other CMS subtype group in yellow. The colour key panel shows the Z-score values calculated for each miRNA, by subtracting the row-mean and then dividing by the standard deviation. Z-scores describe the expression of each miRNA in relation to the mean. Overexpressed miRNAs are shown in red, underexpressed miRNAs in blue. White colour indicates expression change close to 0. Hierarchical clustering was performed for samples and miRNAs. (<b>c</b>) Comparison of <i>CHRNE</i>-patients and other CMS subtypes versus controls revealed only miR-4433b-3p to be differentially expressed. (<b>d</b>) Venn diagram showing the number of unique and common miRNAs that reached significace in the three comparisons, <i>CHRNE</i>-patients versus controls, <i>CHRNE</i>-patients versus other CMS subtypes, <i>CHRNE</i>-patients and other CMS subtypes versus controls</div>
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<p> Fig. 6 </p>
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<div class="figure-caption-contents"><p> Enriched biological processes based on… </p></div>
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<p> Fig. 6 </p>
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<div class="figure-caption-contents"><p> Enriched biological processes based on the experimentally validated target genes of the DEmiRNAs.… </p></div>
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Fig. 6
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<div class="figure-caption-contents">Enriched biological processes based on the experimentally validated target genes of the DEmiRNAs. Gene target of the DEmiRNAs and pathway analysis of the experimentally validated target genes of the differentially expressed miRNAs between (<b>a</b>) <i>CHRNE</i>-patients versus controls, (<b>b</b>) <i>CHRNE</i>- patents versus other CMS subtype patients. (<b>c</b>) Functional analysis of the experimentally validated target genes of the DEmiRNAs in both comparisons, <i>CHRNE</i>-patients versus controls and <i>CHRNE</i>-patients versus other CMS subtype patients. For the functional analysis, the top 20 enriched ontologies from GO biological processes, GO cellular components, GO molecular function and KEGG pathways are present</div>
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Ohkawara B, Ito M, Ohno K (2021) Secreted signaling molecules at the neuromuscular junction in physiology and pathology. Int J Mol Sci Int J Mol Sci; p. 1–16
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Engel AG, Shen XM, Selcen D, Sine SM (2015) Congenital myasthenic syndromes: Pathogenesis, diagnosis, and treatment. Lancet Neurol. Lancet Publishing Group, pp 420–434
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Abicht A, Muller Jj LochmüllerH (2017) Congenital Myasthenic Syndromes - GeneReviews®- NCBI Bookshelf
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Abicht A, Stucka R, Karcagi V, Herczegfalvi A, Horváth R, Mortier W et al (1999) A common mutation (ε1267delG) in congenital myasthenic patients of Gypsy ethnic origin. Neurology 53:1564–1569
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Richard P, Gaudon K, Haddad H, Ammar AB, Genin E, Bauché S et al (2008) The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa. Neurology 71:1967–1972
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