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Article

A recurrent MORC2 mutation causes Charcot-Marie-Tooth disease type 2Z.

Journal of the peripheral nervous system : JPNS - 1 Jun 2021

Vujovic Dragan, Cornblath David R, Scherer Steven S

Abstract excerpt

We found a p.Ala406Val (c.1217C > T) mutation in MORC2 in three individuals, from two families. All three individuals were evaluated and clinical electrophysiology was completed. The neuropathy began in childhood to early adulthood, with distal weakness progressing to proximal weakness. Vinblastine (for Hodgkin lymphoma) acutely worsened the weakness in one patient. This finding confirms that that the p.Ala406Val...

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Identifiers

PMID: 33844363
DOI: 10.1111/jns.12443
PMCID: PMC8544607

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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