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X-linked Charcot-Marie-Tooth disease

✍ Scribed by M. L. Mostacciuolo; E. Müller; P. Fardin; G. F. Micaglio; B. Bardoni; S. Guioli; G. Camerino; G. A. Danieli


Publisher
Springer
Year
1991
Tongue
English
Weight
365 KB
Volume
87
Category
Article
ISSN
0340-6717

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📜 SIMILAR VOLUMES


X-LINKED CHARCOT-MARIE-TOOTH DISEASE AND
✍ 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

Demyelinating X-linked Charcot–Marie–Too
✍ 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

X-linked Charcot-Marie-Tooth disease: Mo
✍ Niewiadomski, Laura A.; Kelly, Thaddeus E. 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 340 KB 👁 2 views

This report describes two families with type 1 Charcot-Marie-Tooth disease (CMTX), or hereditary motor sensory neuropathy type 1. Pedigree analysis is consistent with Xlinked recessive inheritance in one family and X-linked dominant inheritance in the second. In the first family, a mutation in the c

Unusual electrophysiological findings in
✍ Amparo Gutierrez; John D. England; Austin J. Sumner; Scott Ferer; Laura E. Warne 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 260 KB 👁 1 views

X-linked Charcot-Marie-Tooth disease (CMTX) is the second most common form of Charcot-Marie-Tooth disease. Variable histopathological and nerve conduction velocity (NCV) results have suggested either a primary demyelinating or axonal polyneuropathy. We identified five individuals across three genera