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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 allele that caused a substitution of arginine for glycine at amino acid 93 of PMP22. The mutation was located in the...

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Identifiers

PMID: 8752423

Genes

PMP22

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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