Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease.
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منابع مشابه
Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease.
A Spanish family with X linked dominant Charcot-Marie-Tooth (CMTX1) neuropathy was screened for point mutations in the connexin32 gene (GJ beta 1). The patients showed a C-T transition at position 552 which predicts arginine to tryptophan substitution at amino acid 164 (R164K). This mutation destroys an AciI restriction site at position 552 and creates a PflMI restriction site.
متن کاملConnexin32 and X-linked Charcot-Marie-Tooth disease.
Mutations in the gap junction gene connexin32 (Cx32) cause the X-linked form of Charcot-Marie-Tooth disease, an inherited demyelinating neuropathy. More than 130 different mutations have been described, affecting all portions of the Cx32 protein. In transfected cells, the mutant Cx32 proteins encoded by some Cx32 mutations fall to reach the cell surface; other mutant proteins reach the cell sur...
متن کاملTwo novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease
BACKGROUND X-linked Charcot-Marie Tooth (CMT) is caused by mutations in the connexin32 gene that encodes a polypeptide which is arranged in hexameric array and form gap junctions. METHODS We describe two novel mutations in the connexin32 gene in two Norwegian families. RESULTS Family 1 had a c.225delG (R75fsX83) which causes a frameshift and premature stop codon at position 247. This probab...
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X-linked Charcot-Marie-Tooth disease (CMTX) is a clinically heterogeneous hereditary motor and sensory neuropathy with X-linked transmission. Common clinical manifestations of CMTX, as in other forms of Charcot-Marie-Tooth disease (CMT), are distal muscle wasting and weakness, hyporeflexia, distal sensory disturbance, and foot deformities. Motor nerve conduction velocity is reduced. In male pat...
متن کاملX-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.
X-linked dominant Charcot-Marie-Tooth disease (CMTX) is an inherited peripheral neuropathy, caused mainly by a mutation of connexin 32 (Cx32) gene. We performed a mutation analysis of Cx32 by direct sequencing of the coding sequence, then identified 23 mutations from 28 Korean CMTX families. Nine mutations were not reported previously: Gly5Ser, Ser26fs, Val37Leu, Thr86Ile, Val152fs, Phe153Cys, ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1996
ISSN: 1468-6244
DOI: 10.1136/jmg.33.5.413