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Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report.

Neurogenetics - 1 Oct 2020

Halperin Daniel, Sapir Aviad, Wormser Ohad, Drabkin Max, Yogev Yuval, Dolgin Vadim, Flusser Hagit, Birk Ohad S

Abstract excerpt

Mutations in myotubularin-related protein 2 (MTMR2) were shown to underlie Charcot-Marie-Tooth type 4B1 (CMT4B1) disease, a rare autosomal recessive demyelinating neuropathy, characterized by severe early-onset motor and sensory neuropathy. We describe three siblings of consanguineous kindred presenting with hypotonia, reduced muscle tone, action tremor, dysmetria, areflexia, and skeletal deformities, consistent...

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PMID: 32488727
DOI: 10.1007/s10048-020-00617-2

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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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