U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Neuropathy, axonal, with vocal cord paresis, autosomal recessive

MedGen UID:
865410
•Concept ID:
C4016973
•
Finding
Synonym: NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE
 
OMIM®: 606598

Professional guidelines

PubMed

Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.
Bouhouche A, Birouk N, Azzedine H, Benomar A, Durosier G, Ente D, Muriel MP, Ruberg M, Slassi I, Yahyaoui M, Dubourg O, Ouazzani R, LeGuern E
Brain 2007 Apr;130(Pt 4):1062-75. Epub 2007 Mar 8 doi: 10.1093/brain/awm014. PMID: 17347251

Recent clinical studies

Etiology

WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon.
Masingue M, Perrot J, Carlier RY, Piguet-Lacroix G, Latour P, Stojkovic T
Neurogenetics 2018 May;19(2):67-76. Epub 2018 Feb 2 doi: 10.1007/s10048-018-0539-7. PMID: 29396836
Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.
Bouhouche A, Birouk N, Azzedine H, Benomar A, Durosier G, Ente D, Muriel MP, Ruberg M, Slassi I, Yahyaoui M, Dubourg O, Ouazzani R, LeGuern E
Brain 2007 Apr;130(Pt 4):1062-75. Epub 2007 Mar 8 doi: 10.1093/brain/awm014. PMID: 17347251

Diagnosis

WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon.
Masingue M, Perrot J, Carlier RY, Piguet-Lacroix G, Latour P, Stojkovic T
Neurogenetics 2018 May;19(2):67-76. Epub 2018 Feb 2 doi: 10.1007/s10048-018-0539-7. PMID: 29396836
Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.
Bouhouche A, Birouk N, Azzedine H, Benomar A, Durosier G, Ente D, Muriel MP, Ruberg M, Slassi I, Yahyaoui M, Dubourg O, Ouazzani R, LeGuern E
Brain 2007 Apr;130(Pt 4):1062-75. Epub 2007 Mar 8 doi: 10.1093/brain/awm014. PMID: 17347251

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • OMIM
      Related records in OMIM
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...