A Novel GDAP1 Mutation 439delA is Associated with Autosomal Recessive CMT Disease
نویسندگان
چکیده
منابع مشابه
A novel GDAP1 mutation 439delA is associated with autosomal recessive CMT disease.
BACKGROUND Charcot-Marie-Tooth (CMT) disease is the most common form of inherited motor and sensory neuropathy. Based on neurophysiological and neuropathological criteria CMT has been sub-classified into two main types: demyelinating and axonal. Furthermore, it is genetically heterogeneous with autosomal dominant, autosomal recessive (AR) and X-linked modes of inheritance. Thus far, seven genes...
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as a result of higher distributed consanguinity in the mediterranean region and the middle east, autosomal-recessive forms of charcot-marie-tooth (arcmt) are more common in these areas. cmt disease caused by mutations in the ganglioside-induced differentiation-associated protein 1 (gdap1) gene is a severe autosomal recessive neuropathy resulting in either demyelinating cmt4a neuropathy or axona...
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ژورنال
عنوان ژورنال: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
سال: 2006
ISSN: 0317-1671,2057-0155
DOI: 10.1017/s0317167100005199