PubMed:19381883 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/19381883","sourcedb":"PubMed","sourceid":"19381883","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/19381883","text":"Novel GDAP1 mutation in a Turkish family with CMT2K (CMT2K with novel GDAP1 mutation).\nMutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) cause Charcot-Marie-Tooth type 2 (CMT2), a severe autosomal recessive form of neuropathy associated with axonal phenotypes. It has been screened in this study for the presence of mutations in the coding region of GDAP1, which maps to chromosome 8q21, in a family with CMT2. To date, 29 mutations in the GDAP1 have been reported in patients of different ethnic origins. Here, we report a novel missense mutation (c.836A\u003eG), and two polymorphisms: a silent variant (c.102G\u003eC), and a 5'-splice site mutation (IVS5+24C\u003eT) in GDPA1 gene identified in a five generation Turkish family with autosomal recessive 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