Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease

2003/09/16 by Nadia Ammar, Eva Nelis, Luciano Merlini +9 · 45 citations
Biochemistry, Genetics and Molecular Biology · Medicine · Neuroscience · #Allele #Anatomy #Biology #Cellular Mechanics and Interactions #Endocrinology #Ganglioside #Gene #Genetics #Hereditary Neurological Disorders #Medicine #Mutation #Nerve biopsy #Nerve conduction velocity #Paresis #Pathology #Peripheral Neuropathies and Disorders #Peripheral neuropathy #Tooth disease

paper · doi:10.1016/s0960-8966(03)00093-2

published in Neuromuscular Disorders 13(9), 720-728 (Elsevier BV)

openalex publication_date 2003/09/16 · crossref created 2003/09/16 · crossref issued 2003/11/01 · crossref published 2003/11/01 · crossref published-print 2003/11/01 · openalex created_date 2025/10/10 · crossref deposited 2025/10/18 · crossref indexed 2026/03/16 · openalex updated_date 2026/07/28

Cited by

• GDAP1 mutations in Czech families with early-onset CMT
• GDAP1, the protein causing Charcot–Marie–Tooth disease type 4A, is expressed in neurons and is associated with mitochondria
• Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect
• GDAP1 [wikipedia]