Article
A founder mutation in French-Canadian families with X-linked hereditary neuropathy.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques - 1 Feb 2001
Dupré N, Cossette L, Hand C K, Bouchard J P, Rouleau G A, Puymirat J
Abstract excerpt
BACKGROUND: The aim of the present study was to identify the mutations in the connexin 32 gene in French-Canadian families with X-linked Charcot-Marie-Tooth disease (CMTX). METHODS: Molecular analysis was performed by nonisotopic single strand conformation polymorphism (SSCP) analysis and sequencing. Clinical evaluation was carried out according to the scale defined by the European Hereditary Motor and Sensory...
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