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
A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease
โ Scribed by Andrzej Kochanski; Ann Lofgren; Hanna Jedrzejowska; Barbara Ryniewicz; Malwina Czarny-Ratajczak; Anna-Maria Barciszewska; Joanna Samocko; Irena Hausmanowa-Petrusewicz; Peter De Jonghe; Vincent Timmerman; Anna Latos-Bielenska
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 16 KB
- Volume
- 17
- Category
- Article
- ISSN
- 1059-7794
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DNA-based mutation analysis on the connexin 32 gene was performed in 49 families with Charcot-Marie-Tooth disease (CMT) type 1 but without duplication involving the chromosomal region, 17p12-p11.2. Mutations were identified in five of the 49 families, and four of the five mutations were hitherto und
Charcot-Marie-Tooth (CMT) disease consists of genetically heterogeneous neuropathies. Molecular genetic procedures have shown that most patients with CMT type 1 (autosomal dominant, hypertrophic form) have 1.5 Mb CMTlA duplication containing peripheral myelin protein-22 (PMP-22) gene