Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene

2003/05/01 by H Azzedine, Hamid Azzedine, M Ruberg +15 · 44 citations
Biochemistry, Genetics and Molecular Biology · Medicine · Neuroscience · #Allele #Biology #Cellular transport and secretion #Compound heterozygosity #Disease #Gene #Genetic Neurodegenerative Diseases #Genetics #Hereditary Neurological Disorders #Heterozygote advantage #Medicine #Mutation #Pathology #Phenotype

paper · doi:10.1016/s0960-8966(02)00281-x

published in Neuromuscular Disorders 13(4), 341-346 (Elsevier BV)

crossref issued 2003/05/01 · crossref published 2003/05/01 · crossref published-print 2003/05/01 · openalex publication_date 2003/05/01 · crossref created 2006/06/08 · openalex created_date 2025/10/10 · crossref deposited 2026/02/05 · crossref indexed 2026/02/05 · openalex updated_date 2026/07/28

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• Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene
• GDAP1 mutations in Czech families with early-onset CMT
• Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect
• GDAP1 [wikipedia]