Article
[Genetics and pathophysiology of hereditary motor and sensory neuropathy type 1].
Nihon rinsho. Japanese journal of clinical medicine - 1 Oct 1996
Yoshikawa H, Yanagihara T
Abstract excerpt
Hereditary motor and sensory neuropathy type 1 (HMSN1) is the most common, but genetically heterogenous demyelinating peripheral neuropathy. HMSN1A is caused in most cases by a 1.5-Mb tandem duplication in chromosome 17p11.2. Hereditary neuropathy with liability to pressure palsies is caused by the reciprocal deletion of the 1.5-Mb HMSN1A region. The peripheral myelin protein22 (PMP-22) gene is located within the...
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