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Characterization of the Rab7K157N mutant protein associated with Charcot–Marie-Tooth type 2B

✍ Scribed by Azzurra De Luca; Cinzia Progida; Maria Rita Spinosa; Pietro Alifano; Cecilia Bucci


Book ID
116296889
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
506 KB
Volume
372
Category
Article
ISSN
0006-291X

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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