A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease
نویسندگان
چکیده
منابع مشابه
Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation
BACKGROUND Mutations of GDAP1 gene cause autosomal dominant and autosomal recessive Charcot-Marie-Tooth disease and more than 40 different mutations have been reported. The recessive Q163X mutation has been described in patients of Spanish ancestry, and a founder mutation in South American patients, originating in Spain has been demonstrated. OBJECTIVE We describe physical and histological fe...
متن کاملa novel mutation of gdap1 associated with charcot-marie-tooth disease in an iranian family
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...
متن کاملA novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance
BACKGROUND Charcot-Marie-Tooth disease (CMT) refers to a heterogeneous group of genetic motor and sensory neuropathies. According to the primary site of damage, a distinction is made between demyelinating and axonal forms (CMT1 and 2, respectively, when inherited as an autosomal dominant trait). Leucine-rich repeat and sterile alpha motif-containing protein 1 (LRSAM1) is a ubiquitin-protein lig...
متن کاملA novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect.
BACKGROUND Mutations in a gene encoding a novel protein of unknown function-the ganglioside-induced differentiation-associated protein 1 gene (GDAP1)-are associated with the autosomal recessive Charcot-Marie-Tooth disease type 4A (CMT4A). OBJECTIVE To investigate the role of GDAP1 mutations in causing autosomal recessive neuropathies in an Italian population. METHODS AND RESULTS 76 patients...
متن کاملCharcot-Marie-Tooth disease
Charcot-Marie-Tooth (CMT) disease is the most prevalent peripheral inherited neuropathy (1/2500 to 10 000; 2.8/10 000 in Spain), and the mean age at onset is 16 years (range 2 to 50 years, but presentation in the early infancy and as late as the 80's has been reported). Patients present with motor and sensory polyneuropathic semiology (distal lower limb weakness and atrophy, gait abnormalities ...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2008
ISSN: 1434-5161,1435-232X
DOI: 10.1007/s10038-008-0249-3