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Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene

✍ Scribed by Andrzej Kochański; Dagmara Kabzińska; Hanna Drac; Barbara Ryniewicz; Katarzyna Rowińska-Marcińska; Irena Hausmanowa-Petrusewicz


Book ID
113589988
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
164 KB
Volume
8
Category
Article
ISSN
1090-3798

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Mutations in the myelin protein zero gen
✍ Philippe Latour; Françoise Blanquet; Eva Nelis; Christine Bonnebouche; Fraņoise 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 437 KB

Communicated by Jean-Louis Mandel Charcot-Marie-Tooth type 1 (CMT1) disease is an autosomal dominant neuropathy of the peripheral nerve. The majority of CMT 1 cases are due to a duplication of an 1.5-Mb DNA fragment on chromosome 17pl1.2 (CMT la). Micromutations were found in the gene for peripheral