𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Pathological findings in the x-linked form of Charcot-Marie-Tooth disease: a morphometric and ultrastructural analysis

✍ Scribed by Angelika F. Hahn; Peter J. Ainsworth; Charles F. Bolton; Juan M. Bilbao; Jean-Michel Vallat

Publisher
Springer-Verlag
Year
2001
Tongue
English
Weight
589 KB
Volume
101
Category
Article
ISSN
0001-6322

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

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 📂 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

X-linked Charcot-Marie-Tooth disease: Mo
X-linked Charcot-Marie-Tooth disease: Molecular analysis of interfamilial variability
✍ 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

A novel mutation of gap junction protein
A novel mutation of gap junction protein beta 1 gene in x-linked charcot–marie–tooth disease
✍ Sheng Dong Chen; Zheng Xi Li; Yang Tai Guan; Xia Jun Zhou; Jian Ming Jiang; Yong 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 287 KB

## Abstract Introduction: In this study we report a novel mutation in the gap junction protein beta 1 (__GJB1__) gene of a Chinese X‐linked Charcot–Marie–Tooth disease (CMTX1) family, which has specific electrophysiological characteristics. Methods: Twenty members in the family were studied by clin

X-linked Charcot–Marie–Tooth disease: Ph
X-linked Charcot–Marie–Tooth disease: Phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene
✍ Petr Vondracek; Pavel Seeman; Marketa Hermanova; Lenka Fajkusova 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 74 KB

## Abstract We report a family with X‐linked dominant Charcot–Marie–Tooth disease (CMTX1). Three affected family members are described, who underwent detailed clinical, electrophysiological, molecular genetic, and histopathological studies. A novel isoleucine at position 127 with serine (Ile127Ser)