A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation.
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منابع مشابه
A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation.
Charcot-Marie-Tooth (CMT) disease caused by mutations in the GDAP1 gene has been shown to be inherited via traits that may be either autosomal recessive (in the majority of cases) [CMT4A] or autosomal dominant [CMT2K]. CMT4A disease is characterized by an early onset, and a severe clinical course often leading to a loss of ambulation, whereas CMT2K is characterized by a mild clinical course of ...
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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...
متن کاملCharcot 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...
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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...
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BACKGROUND The first locus for demyelinating autosomal recessive Charcot-Marie-Tooth (ARCMT) disease was identified in 8q13, where mutations in GDAP1 have been found. Mutations in the same gene have been detected in families with axonal ARCMT disease. OBJECTIVE To determine the clinical, electrophysiologic, and morphologic characteristics of a consanguineous Moroccan family with ARCMT disease...
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ژورنال
عنوان ژورنال: Acta Biochimica Polonica
سال: 2014
ISSN: 1734-154X,0001-527X
DOI: 10.18388/abp.2014_1839