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Myotonic dystrophy type I combined with X-linked dominant Charcot–Marie–Tooth neuropathy

✍ Scribed by Hyun Sook Kim; Ki Wha Chung; Sung Hee Kang; Sung Kyung Choi; Sun Young Cho; Heasoo Koo; Sang-Beom Kim; Byung-Ok Choi


Book ID
106257340
Publisher
Springer
Year
2010
Tongue
English
Weight
878 KB
Volume
11
Category
Article
ISSN
1364-6745

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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