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

2004/02/27 by Tanya Stojkovic, Philippe Latour, Ghislaine Viet +7 · 37 citations
Biochemistry, Genetics and Molecular Biology · Medicine · Neuroscience · #Anatomy #Biology #Frameshift mutation #Gene #Genetics #Hereditary Neurological Disorders #Internal medicine #Medicine #Mutation #Neurological diseases and metabolism #Paralysis #Pes cavus #Signaling Pathways in Disease #Surgery #Vocal cord paralysis

paper · doi:10.1016/j.nmd.2004.01.003

published in Neuromuscular Disorders 14(4), 261-264 (Elsevier BV)

openalex publication_date 2004/02/27 · crossref created 2004/02/27 · crossref issued 2004/04/01 · crossref published 2004/04/01 · crossref published-print 2004/04/01 · openalex created_date 2016/06/24 · crossref deposited 2025/10/18 · crossref indexed 2026/02/12 · openalex updated_date 2026/07/28

Citations

• Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene
• Phenotypical Features of a Moroccan Family With Autosomal Recessive Charcot-Marie-Tooth Disease Associated With the S194X Mutation in the GDAP1 Gene

Cited by

• 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]