𝔖 Bobbio Scriptorium
✦   LIBER   ✦

X-LINKED CHARCOT-MARIE-TOOTH DISEASE AND CONNEXIN32

✍ Scribed by Victor V. Ionasescu

Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
166 KB
Volume
22
Category
Article
ISSN
1065-6995

No coin nor oath required. For personal study only.

✦ Synopsis

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 showed a mild clinical phenotype and slowing of motor nerve conduction velocities. All five nonsense mutations, the larger deletion and the insertion showed severe clinical phenotype. Four CMTX1 families with mild clinical phenotype showed no point mutations of the Cx32 gene coding region. Two mutations of the non-coding region were identified. The first mutation was located in the nerve specific Cx32 promoter, the second mutation was located in the 5 untranslated region of the mRNA.

πŸ“œ SIMILAR VOLUMES

Novel mutations in the connexin 32 gene
Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease
✍ Charles C. Tan; Peter J. Ainsworth; Angelika F. Hahn; Patrick M. MacLeod πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 480 KB πŸ‘ 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

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 πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 220 KB πŸ‘ 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

Correlation between connexin 32 gene mut
Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-tooth neuropathy
✍ Ionasescu, Victor; Ionasescu, Rebecca; Searby, Charles πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 44 KB πŸ‘ 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

X-linked Charcot-Marie-Tooth disease: Mo
X-linked Charcot-Marie-Tooth disease: Molecular analysis of interfamilial variability
✍ Niewiadomski, Laura A.; Kelly, Thaddeus E. πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 340 KB πŸ‘ 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
Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease
✍ Amparo Gutierrez; John D. England; Austin J. Sumner; Scott Ferer; Laura E. Warne πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 260 KB πŸ‘ 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