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<meta name="keywords" content="C5435765, charcot-marie-tooth disease, axonal, mitochondrial form, 1, cmtma1, disease or syndrome, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Mitochondrial axonal Charcot-Marie-Tooth disease (CMTMA) is inherited only through the maternal line. The disorder is characterized by onset of distal muscle weakness and atrophy mainly affecting the lower limbs and resulting in difficulty walking in the second decade of life, although both earlier and later onset can occur. Upper limb involvement often develops with time, and affected individuals have weakness and atrophy of the intrinsic hand muscles. Other features may include distal sensory impairment, foot deformities, scoliosis, hypo- or hyperreflexia, spastic paraparesis, and neurogenic bladder. Electrophysiologic studies are compatible with an axonal sensorimotor peripheral neuropathy, and muscle and nerve biopsy show evidence of mitochondrial dysfunction with decreased activities of respiratory complexes, mtDNA deletions, and mitochondrial hyperplasia (summary by Fay et al., 2020)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1731194
|
||
ConceptID=C5435765
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1<span class="h1sub">(CMTMA1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1731194</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C5435765</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>CHARCOT-MARIE-TOOTH DISEASE, AXONAL, MITOCHONDRIAL FORM, 1; CMTMA1</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0025622" target="_blank">MONDO:0025622</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/500013" target="_blank">500013</a></td></tr>
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">Mitochondrial axonal Charcot-Marie-Tooth disease (CMTMA) is inherited only through the maternal line. The disorder is characterized by onset of distal muscle weakness and atrophy mainly affecting the lower limbs and resulting in difficulty walking in the second decade of life, although both earlier and later onset can occur. Upper limb involvement often develops with time, and affected individuals have weakness and atrophy of the intrinsic hand muscles. Other features may include distal sensory impairment, foot deformities, scoliosis, hypo- or hyperreflexia, spastic paraparesis, and neurogenic bladder. Electrophysiologic studies are compatible with an axonal sensorimotor peripheral neuropathy, and muscle and nerve biopsy show evidence of mitochondrial dysfunction with decreased activities of respiratory complexes, mtDNA deletions, and mitochondrial hyperplasia (summary by Fay et al., 2020). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
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||
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_595"><div><strong>Neurogenic bladder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>595</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0005697</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/595">Feature record</a> | <a href="/medgen?term=%22Neurogenic%20bladder%22%5BClinical%20Features%5D%20OR%20595%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_675590"><div><strong>Pes cavus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>675590</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0728829</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/675590">Feature record</a> | <a href="/medgen?term=%22Pes%20cavus%22%5BClinical%20Features%5D%20OR%20675590%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324514"><div><strong>Distal lower limb muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324514</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836450</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced strength of the distal musculature of the legs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324514">Feature record</a> | <a href="/medgen?term=%22Distal%20lower%20limb%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20324514%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_461970"><div><strong>Distal upper limb muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>461970</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3150620</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced strength of the distal musculature of the arms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/461970">Feature record</a> | <a href="/medgen?term=%22Distal%20upper%20limb%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20461970%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1636532"><div><strong>Equinovarus deformity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1636532</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551566</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1636532">Feature record</a> | <a href="/medgen?term=%22Equinovarus%20deformity%22%5BClinical%20Features%5D%20OR%201636532%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_19708"><div><strong>Babinski sign</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19708</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0034935</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19708">Feature record</a> | <a href="/medgen?term=%22Babinski%20sign%22%5BClinical%20Features%5D%20OR%2019708%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52432"><div><strong>Spastic paraparesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52432</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0037771</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mild or moderate loss of motor function accompanied by spasticity in the lower extremities. This condition is a manifestation of CENTRAL NERVOUS SYSTEM DISEASES that cause injury to the motor cortex or descending motor pathways.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52432">Feature record</a> | <a href="/medgen?term=%22Spastic%20paraparesis%22%5BClinical%20Features%5D%20OR%2052432%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57738"><div><strong>Hyperreflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57738</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0151889</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57738">Feature record</a> | <a href="/medgen?term=%22Hyperreflexia%22%5BClinical%20Features%5D%20OR%2057738%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66020"><div><strong>Sensory ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66020</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0240991</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66020">Feature record</a> | <a href="/medgen?term=%22Sensory%20ataxia%22%5BClinical%20Features%5D%20OR%2066020%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107895"><div><strong>Gait disturbance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107895</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0575081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The term gait disturbance can refer to any disruption of the ability to walk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107895">Feature record</a> | <a href="/medgen?term=%22Gait%20disturbance%22%5BClinical%20Features%5D%20OR%20107895%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_195967"><div><strong>Hyporeflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195967</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0700078</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduction of neurologic reflexes such as the knee-jerk reaction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/195967">Feature record</a> | <a href="/medgen?term=%22Hyporeflexia%22%5BClinical%20Features%5D%20OR%20195967%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_207266"><div><strong>Sensorimotor neuropathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>207266</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1112256</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/207266">Feature record</a> | <a href="/medgen?term=%22Sensorimotor%20neuropathy%22%5BClinical%20Features%5D%20OR%20207266%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_220959"><div><strong>Impaired vibratory sensation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220959</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1295585</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/220959">Feature record</a> | <a href="/medgen?term=%22Impaired%20vibratory%20sensation%22%5BClinical%20Features%5D%20OR%20220959%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_346424"><div><strong>Impaired proprioception</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346424</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1856691</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A loss or impairment of the sensation of the relative position of parts of the body and joint position.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346424">Feature record</a> | <a href="/medgen?term=%22Impaired%20proprioception%22%5BClinical%20Features%5D%20OR%20346424%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324515"><div><strong>Distal lower limb amyotrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324515</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836451</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Muscular atrophy of distal leg muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324515">Feature record</a> | <a href="/medgen?term=%22Distal%20lower%20limb%20amyotrophy%22%5BClinical%20Features%5D%20OR%20324515%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_339618"><div><strong>Interosseus muscle atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339618</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1846829</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339618">Feature record</a> | <a href="/medgen?term=%22Interosseus%20muscle%20atrophy%22%5BClinical%20Features%5D%20OR%20339618%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_355274"><div><strong>Thenar muscle atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355274</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1864715</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355274">Feature record</a> | <a href="/medgen?term=%22Thenar%20muscle%20atrophy%22%5BClinical%20Features%5D%20OR%20355274%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_478824"><div><strong>Fiber type grouping</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>478824</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3277194</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal distribution of muscle fiber types in muscle tissue. Human skeletal muscle contains at least two fiber types recognizable by histochemical techniques. In transverse sections of normal skeletal muscle, type 1 and type 2 fibers are distributed in a random fashion. Grouping of fibers of the same type can be seen in certain peripheral neuropathies, thought to be due to reinnervation of denervated muscle fibers by sprouting axons. With grouping, motor units enlarge. The fibers of a motor unit, which are normally scattered, come to lie adjacent to one another. Histochemical examination shows groups of muscle fibers of the same histochemical type.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/478824">Feature record</a> | <a href="/medgen?term=%22Fiber%20type%20grouping%22%5BClinical%20Features%5D%20OR%20478824%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_393796"><div><strong>Decreased activity of mitochondrial complex I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393796</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2677650</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/393796">Feature record</a> | <a href="/medgen?term=%22Decreased%20activity%20of%20mitochondrial%20complex%20I%22%5BClinical%20Features%5D%20OR%20393796%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_460434"><div><strong>Decreased activity of mitochondrial complex III</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>460434</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3149083</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/460434">Feature record</a> | <a href="/medgen?term=%22Decreased%20activity%20of%20mitochondrial%20complex%20III%22%5BClinical%20Features%5D%20OR%20460434%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_866520"><div><strong>Decreased activity of mitochondrial complex IV</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866520</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4020800</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/866520">Feature record</a> | <a href="/medgen?term=%22Decreased%20activity%20of%20mitochondrial%20complex%20IV%22%5BClinical%20Features%5D%20OR%20866520%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1740956"><div><strong>Mitochondrial hypertrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1740956</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5435767</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Enlargement of mitochondria. Mitochondrial hypertrophy is not discernible by light microscopy. By electron microscopy (EM), hypertrophic mitochondria have normal cristae and normal matrix density. In contrast, swollen mitochondria display swollen cristae and irregular matrix densities in EM.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1740956">Feature record</a> | <a href="/medgen?term=%22Mitochondrial%20hypertrophy%22%5BClinical%20Features%5D%20OR%201740956%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormal cellular phenotype</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_393796" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased activity of mitochondrial complex I</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_460434" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased activity of mitochondrial complex III</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_866520" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased activity of mitochondrial complex IV</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1740956" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial hypertrophy</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324514" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal lower limb muscle weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_461970" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal upper limb muscle weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1636532" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Equinovarus deformity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_675590" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pes cavus</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_595" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurogenic bladder</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324515" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal lower limb amyotrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_478824" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fiber type grouping</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_339618" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Interosseus muscle atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_355274" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thenar muscle atrophy</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19708" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Babinski sign</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107895" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gait disturbance</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57738" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperreflexia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_195967" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyporeflexia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_346424" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impaired proprioception</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_220959" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impaired vibratory sensation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_207266" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sensorimotor neuropathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66020" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sensory ataxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52432" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic paraparesis</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33415332">Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pipis M,
|
||
Feely SME,
|
||
Polke JM,
|
||
Skorupinska M,
|
||
Perez L,
|
||
Shy RR,
|
||
Laura M,
|
||
Morrow JM,
|
||
Moroni I,
|
||
Pisciotta C,
|
||
Taroni F,
|
||
Vujovic D,
|
||
Lloyd TE,
|
||
Acsadi G,
|
||
Yum SW,
|
||
Lewis RA,
|
||
Finkel RS,
|
||
Herrmann DN,
|
||
Day JW,
|
||
Li J,
|
||
Saporta M,
|
||
Sadjadi R,
|
||
Walk D,
|
||
Burns J,
|
||
Muntoni F,
|
||
Ramchandren S,
|
||
Horvath R,
|
||
Johnson NE,
|
||
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Pareyson D,
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Rossor AM,
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<div class="portlet_content ln"><span class="medgenPMauthor">Benedetti S,
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Previtali SC,
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Coviello S,
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Scarlato M,
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Cerri F,
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Di Pierri E,
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Piantoni L,
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Spiga I,
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Fazio R,
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Riva N,
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Natali Sora MG,
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Dacci P,
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Malaguti MC,
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Munerati E,
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Grimaldi LM,
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Marrosu MG,
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De Pellegrin M,
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Ferrari M,
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Comi G,
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Quattrini A,
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Bolino A</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/21149811" target="_blank">21149811</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Charcot-Marie-Tooth%20disease%2C%20axonal%2C%20mitochondrial%20form%2C%201%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div><h3 class="subhead">Therapy</h3>
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Polke JM,
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Skorupinska M,
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Perez L,
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Shy RR,
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Laura M,
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Morrow JM,
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Moroni I,
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Pisciotta C,
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Taroni F,
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Vujovic D,
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Lloyd TE,
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Acsadi G,
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Yum SW,
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Lewis RA,
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Finkel RS,
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Herrmann DN,
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Day JW,
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Li J,
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Saporta M,
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Sadjadi R,
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Walk D,
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Burns J,
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Muntoni F,
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Ramchandren S,
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Horvath R,
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Johnson NE,
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Züchner S,
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Pareyson D,
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Scherer SS,
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Rossor AM,
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Shy ME,
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Reilly MM;
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Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN)</span><br />
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doi: 10.1093/brain/awaa323.
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<span class="bold">PMID: </span><a href="/pubmed/33415332" target="_blank">33415332</a><a href="/pmc/articles/PMC7805791" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Charcot-Marie-Tooth%20disease%2C%20axonal%2C%20mitochondrial%20form%2C%201%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/34118926">Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Berti B,
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Longo G,
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Mari F,
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Doccini S,
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Piccolo I,
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Donati MA,
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Moro F,
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Guerrini R,
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Santorelli FM,
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Petruzzella V</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/34118926" target="_blank">34118926</a><a href="/pmc/articles/PMC8199524" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/32897397">Deep geno- and phenotyping in two consanguineous families with CMT2 reveals HADHA as an unusual disease-causing gene and an intronic variant in GDAP1 as an unusual mutation.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Khani M,
|
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Taheri H,
|
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Shamshiri H,
|
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Moazzeni H,
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Hardy J,
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Bras JT,
|
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InanlooRahatloo K,
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Alavi A,
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Nafissi S,
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Elahi E</span><br />
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<span class="medgenPMjournal">J Neurol</span>
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2021 Feb;268(2):640-650.
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Epub 2020 Sep 8
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doi: 10.1007/s00415-020-10171-4.
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<span class="bold">PMID: </span><a href="/pubmed/32897397" target="_blank">32897397</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33415332">Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pipis M,
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Feely SME,
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Polke JM,
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Skorupinska M,
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Perez L,
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Shy RR,
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Laura M,
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Morrow JM,
|
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Moroni I,
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Pisciotta C,
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Taroni F,
|
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Vujovic D,
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Lloyd TE,
|
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Acsadi G,
|
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Yum SW,
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Lewis RA,
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Finkel RS,
|
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Herrmann DN,
|
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Day JW,
|
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Li J,
|
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Saporta M,
|
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Sadjadi R,
|
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Walk D,
|
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Burns J,
|
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Muntoni F,
|
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Ramchandren S,
|
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Horvath R,
|
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Johnson NE,
|
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Züchner S,
|
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Pareyson D,
|
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Scherer SS,
|
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Rossor AM,
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Shy ME,
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Reilly MM;
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Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN)</span><br />
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<span class="medgenPMjournal">Brain</span>
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2020 Dec 1;143(12):3589-3602.
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<span class="bold">PMID: </span><a href="/pubmed/33415332" target="_blank">33415332</a><a href="/pmc/articles/PMC7805791" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/24957169" target="_blank">24957169</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/21365284">A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease.</a></div>
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Niemann A,
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Drac H,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Charcot-Marie-Tooth%20disease%2C%20axonal%2C%20mitochondrial%20form%2C%201%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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Ly C,
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<div class="nl"><a target="_blank" href="/pubmed/34118926">Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Berti B,
|
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Longo G,
|
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Mari F,
|
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Doccini S,
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Piccolo I,
|
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Donati MA,
|
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Moro F,
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Guerrini R,
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Santorelli FM,
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Petruzzella V</span><br />
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doi: 10.1186/s12920-021-01001-1.
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<span class="bold">PMID: </span><a href="/pubmed/34118926" target="_blank">34118926</a><a href="/pmc/articles/PMC8199524" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33415332">Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Pipis M,
|
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Feely SME,
|
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Polke JM,
|
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Skorupinska M,
|
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Perez L,
|
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Shy RR,
|
||
Laura M,
|
||
Morrow JM,
|
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Moroni I,
|
||
Pisciotta C,
|
||
Taroni F,
|
||
Vujovic D,
|
||
Lloyd TE,
|
||
Acsadi G,
|
||
Yum SW,
|
||
Lewis RA,
|
||
Finkel RS,
|
||
Herrmann DN,
|
||
Day JW,
|
||
Li J,
|
||
Saporta M,
|
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Sadjadi R,
|
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Walk D,
|
||
Burns J,
|
||
Muntoni F,
|
||
Ramchandren S,
|
||
Horvath R,
|
||
Johnson NE,
|
||
Züchner S,
|
||
Pareyson D,
|
||
Scherer SS,
|
||
Rossor AM,
|
||
Shy ME,
|
||
Reilly MM;
|
||
Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN)</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2020 Dec 1;143(12):3589-3602.
|
||
doi: 10.1093/brain/awaa323.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33415332" target="_blank">33415332</a><a href="/pmc/articles/PMC7805791" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25152455">A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tamiya G,
|
||
Makino S,
|
||
Hayashi M,
|
||
Abe A,
|
||
Numakura C,
|
||
Ueki M,
|
||
Tanaka A,
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||
Ito C,
|
||
Toshimori K,
|
||
Ogawa N,
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Terashima T,
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||
Maegawa H,
|
||
Yanagisawa D,
|
||
Tooyama I,
|
||
Tada M,
|
||
Onodera O,
|
||
Hayasaka K</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2014 Sep 4;95(3):294-300.
|
||
Epub 2014 Aug 21
|
||
doi: 10.1016/j.ajhg.2014.07.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25152455" target="_blank">25152455</a><a href="/pmc/articles/PMC4157141" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24957169">Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bombelli F,
|
||
Stojkovic T,
|
||
Dubourg O,
|
||
Echaniz-Laguna A,
|
||
Tardieu S,
|
||
Larcher K,
|
||
Amati-Bonneau P,
|
||
Latour P,
|
||
Vignal O,
|
||
Cazeneuve C,
|
||
Brice A,
|
||
Leguern E</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2014 Aug;71(8):1036-42.
|
||
doi: 10.1001/jamaneurol.2014.629.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24957169" target="_blank">24957169</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Charcot-Marie-Tooth%20disease%2C%20axonal%2C%20mitochondrial%20form%2C%201%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (9)</a></div></div>
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