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X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene

✍ Scribed by Catherine Ressot; Philippe Latour; Françoise Blanquet-Grossard; Franck Sturtz; Sylvie Duthel; Jacques Battin; Emmanuel Corbillon; Elizabeth Ollagnon; Françoise Serville; Antoon Vandenberghe; André Dautigny; D. Pham-Dinh


Publisher
Springer
Year
1996
Tongue
English
Weight
55 KB
Volume
98
Category
Article
ISSN
0340-6717

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📜 SIMILAR VOLUMES


Correlation between connexin 32 gene mut
✍ Ionasescu, Victor; Ionasescu, Rebecca; Searby, Charles 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 44 KB 👁 2 views

We studied the relationship between the genotype and clinical phenotype in 27 families with dominant X-linked Charcot-Marie-Tooth (CMTX1) neuropathy. Twenty-two families showed mutations in the coding region of the connexin32 (cx32) gene. The mutations include four nonsense mutations, eight missense

Novel mutations in the connexin 32 gene
✍ Charles C. Tan; Peter J. Ainsworth; Angelika F. Hahn; Patrick M. MacLeod 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 480 KB 👁 2 views

by R d G. Worton Charcot-Marie tooth disease, a pathologically and genetically heterogeneous group of disorders that causes a progressive neuropathy, is characterized by weakness and atrophy, primarily in peroneal and distal leg muscles. It is defined patholog-Mutation leads to 10s:. of this Mae 111