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X-linked recessive Charcot–Marie-Tooth neuropathy: Clinical and genetic study

✍ Scribed by Dr. Victor V. Ionasescu; Dr. James Trofatter; Dr. Jonathan L. Haines; Dr. Anne M. Summers; Dr. Rebecca Ionasescu; Dr. Mr. Charles Searby

Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
353 KB
Volume
15
Category
Article
ISSN
0148-639X

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X-LINKED CHARCOT-MARIE-TOOTH DISEASE AND
X-LINKED CHARCOT-MARIE-TOOTH DISEASE AND CONNEXIN32
✍ Victor V. Ionasescu 📂 Article 📅 1998 🏛 Elsevier Science 🌐 English ⚖ 166 KB

We studied 29 families with X-linked dominant CMT (CMTX1) neuropathy. Twenty-five families showed mutations in the coding region of the connexin32 (Cx32) gene. The mutations included five nonsense mutations, 17 missense mutations, two medium size deletions and one insertion. Most missense mutations

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Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-tooth neuropathy
✍ 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

Demyelinating X-linked Charcot–Marie–Too
Demyelinating X-linked Charcot–Marie–Tooth disease: Unusual electrophysiological findings
✍ F. Tabaraud; E. Lagrange; P. Sindou; A. Vandenberghe; N. Levy; J.M. Vallat 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 220 KB 👁 1 views

X-linked Charcot-Marie-Tooth disease (CMT-X) is caused by mutations of connexin-32 (Cx-32), which encodes a gap-junction protein. Whether the neuropathy is primarily demyelinative or axonal remains to be established. We report findings of prominent demyelination in a 71-year-old woman with late-ons