CMTX1: A gap junction genetic disease.

DC Spray - The Lancet, 1994 - elibrary.ru
Opinion. Comments a human genetic disease involving mutations in a gap junction protein,
from attempts to localize the genes responsible for Charcot-Marie-Tooth syndrome …

Connexin mutations in X-linked Charcot-Marie-Tooth disease

J Bergoffen, SS Scherer, S Wang, MO Scott, LJ Bone… - Science, 1993 - science.org
X-linked Charcot-Marie-Tooth disease (CMTX) is a form of hereditary neuropathy with
demyelination. Recently, this disorder was mapped to chromosome Xq13. 1. The gene for …

Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance

K Silander, P Meretoja, H Pihko, V Juvonen… - Human genetics, 1997 - Springer
The X-linked dominant form of Charcot-Marie-Tooth disease (CMTX) is associated with
mutations in a gene coding for the gap-junction protein connexin 32 (Cx32). We screened …

Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)

N Fairweather, C Bell, S Cochrane… - Human Molecular …, 1994 - academic.oup.com
X-linked dominant Charcot-Marie-Tooth disease (CMTX1) is a peripheral neuropathy which
maps to Xq13 and is flanked by the locl DXS 106 (Xq11. 2-q12) and DXS559 (Xq13. 1) …

Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X

KA Kleopa, E Zamba-Papanicolaou, X Alevra… - Neurology, 2006 - AAN Enterprises
Objective: To determine the phenotypic and cellular expression of two novel connexin32
(Cx32) mutations causing X-linked Charcot–Marie–Tooth disease (CMT1X). Methods: The …

[PDF][PDF] Mutation analysis in Charcot‐Marie‐Tooth disease type 1 (CMT1)

E Sorour, M Upadhyaya - Human Mutation, 1998 - researchgate.net
The hereditary motor and sensory neruopathies (HMSNs) are a clinically heterogeneous
group of disorders, Causing significant neuromuscular impairment (Dyck et al., 1993) …

Phenotype expression in women with CMT1X

CE Siskind, SM Murphy, R Ovens… - Journal of the …, 2011 - Wiley Online Library
Charcot‐Marie‐Tooth disease type 1X (CMT1X) is the second most common inherited
peripheral neuropathy. Women with CMT1X typically have a less severe phenotype than …

Linkage studies in Charcot‐Marie‐Tooth disease type 2: evidence that CMT types 1 and 2 are distinct genetic entities

LJ Loprest, MA Pericak-Vance, J Stajich, PC Gaskell… - Neurology, 1992 - AAN Enterprises
Charcot-Marie-Tooth disease (CMT), the most common inherited peripheral neuropathy, is a
progressive sensorimotor neuropathy divided into types 1 and 2 based upon …

The human connexin32 gene is transcribed from two tissue-specific promoters

IM Neuhaus, L Bone, S Wang, V Ionasescu, R Werner - Bioscience reports, 1996 - Springer
Abstract The connexin32 (cx32) gene codes for the gap junction protein found in liver,
pancreas and nervous tissue. Recently mutations in the coding region of this gene have …

Six new gap junction beta 1 gene mutations and their phenotypic expression in Czech patients with Charcot-Marie-Tooth disease

D Brožková, R Mazanec, J Haberlová… - Genetic testing and …, 2010 - liebertpub.com
X-linked Charcot-Marie-Tooth (CMTX) disease is a hereditary motor and sensory
neuropathy caused by mutations in the gap junction beta 1 gene (GJB1 codes for connexin …