[Clinical, pathologic and molecular genetic studies of patients with hereditary motor and sensory neuropathy (HMSN)].

Article

[Clinical, pathologic and molecular genetic studies of patients with hereditary motor and sensory neuropathy (HMSN)].

Rinsho shinkeigaku = Clinical neurology - 1 Dec 1995

Ohnishi A

Abstract excerpt

Clinical, pathologic and molecular genetic studies of Japanese HMSN patients were reported. Among 26 HMSN I probands tested, the PMP22 gene region was duplicated in 18 (69%). A proband of HNPP, whose PMP22 gene region was deleted, was described. A proband with HMSN I was found to have a mutant al...

Topics

Adolescent
Adult
Alleles
Charcot-Marie-Tooth Disease
Connexins
Female
Humans
Male
Mutation
Myelin Proteins
Sural Nerve
Gap Junction beta-1 Protein

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