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Article

A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP.

Journal of neuromuscular diseases - 1 Jan 2020

Benquey T, Fockens E, Kouton L, Delmont E, Martini N, Levy N, Attarian S, Bonello-Palot N

Abstract excerpt

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant inherited disorder commonly presenting with acute-onset, non-painful focal sensory and motor mono neuropathy. In 80% of cases, the genetic defect is a 1.5 Mb deletion on chromosome 17p11.2, including PMP22. Only few cases of partial deletion and point mutations in PMP22 are involved in HNPP. We investigated a 62-years-old man...

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Identifiers

PMID: 32538861
DOI: 10.3233/JND-190460

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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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A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP.PMID 32538861Read ↗

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