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Article

Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.

Journal of neurology, neurosurgery, and psychiatry - 1 Aug 1999

Mastaglia F L, Nowak K J, Stell R, Phillips B A, Edmondston J E, Dorosz S M, Wilton S D, Hallmayer J, Kakulas B A, Laing N G

Abstract excerpt

OBJECTIVES: To determine the molecular basis for autosomal dominant intermediate hereditary motor and sensory neuropathy (HMSN) in a four generation family. The gene defects in families with intermediate HMSN are not known, but it has been suggested that most have X linked HMSN. METHODS: All participating family members were examined clinically. Genomic DNA was obtained from 10 affected and seven unaffected...

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Identifiers

PMID: 10406984
DOI: 10.1136/jnnp.67.2.174
PMCID: PMC1736462

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

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