Mutations in GDAP1: Autosomal recessive CMT with demyelination and axonopathy

Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) were recently shown to be responsible for autosomal recessive (AR) demyelinating Charcot-Marie-Tooth disease (CMT) type 4A (CMT4A) as well as AR axonal CMT with vocal cord paralysis. The coding region of GDAP1 was...

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Veröffentlicht in:	Neurology 2002-12, Vol.59 (12), p.1865-1872
Hauptverfasser:	NELIS, E, ERDEM, S, VERELLEN, C, TAN, E, DEMIRCI, M, VAN BROECKHOVEN, C, DE JONGHE, P, TOPALOGLU, H, TIMMERMAN, V, VAN DEN BERGH, P. Y. K, BELPAIRE-DETHIOU, M.-C, CEUTERICK, C, VAN GERWEN, V, CUESTA, A, PEDROLA, L, PALAU, F, GABREËLS-FESTEN, A. A. W. M
Format:	Artikel
Sprache:	eng
Schlagworte:	Age of Onset Axons - pathology Biological and medical sciences Charcot-Marie-Tooth Disease - genetics Charcot-Marie-Tooth Disease - pathology Charcot-Marie-Tooth Disease - physiopathology Child Child, Preschool Chromosomes, Human, Pair 8 - genetics Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Demyelinating Diseases - genetics Demyelinating Diseases - pathology Demyelinating Diseases - physiopathology Electrophysiology Family Female Genes, Recessive - genetics Genetic Linkage - genetics Genetic Testing Humans Infant Male Medical sciences Mutation - genetics Nerve Tissue Proteins - genetics Neural Conduction - physiology Neurology Pedigree Sural Nerve - pathology Turkey
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