[Genetics and pathophysiology of hereditary motor and sensory neuropathy type 1].

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 t...

Topics

Charcot-Marie-Tooth Disease
Connexins
Demyelinating Diseases
Gene Deletion
Genotype
Humans
Myelin Proteins
Phenotype
Point Mutation
Repetitive Sequences, Nucleic Acid
Gap Junction beta-1 Protein

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