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Article

A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness.

Neuromuscular disorders : NMD - 1 Apr 2023

Segarra-Casas Alba, Collet Roger, Gonzalez-Quereda Lidia, Vesperinas Ana, Caballero-Ávila Marta, Carbayo Alvaro, Díaz-Manera Jordi, Rodriguez María José, Gallardo Eduard, Gallano Pia, Olivé Montse

Abstract excerpt

Nemaline myopathy (NEM) type 10, caused by biallelic mutations in LMOD3, is a severe congenital myopathy clinically characterized by generalized hypotonia and muscle weakness, respiratory insufficiency, joint contractures, and bulbar weakness. Here, we describe a family with two adult patients presenting mild nemaline myopathy due to a novel homozygous missense variant in LMOD3. Both patients presented mild...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36893608
DOI: 10.1016/j.nmd.2023.02.006

Provenance

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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