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Article

The Influence of a Genetic Variant in CCDC78 on LMNA-Associated Skeletal Muscle Disease.

International journal of molecular sciences - 30 Apr 2024

Mohar Nathaniel P, Cox Efrem M, Adelizzi Emily, Moore Steven A, Mathews Katherine D, Darbro Benjamin W, Wallrath Lori L

Abstract excerpt

Mutations in the LMNA gene-encoding A-type lamins can cause Limb-Girdle muscular dystrophy Type 1B (LGMD1B). This disease presents with weakness and wasting of the proximal skeletal muscles and has a variable age of onset and disease severity. This variability has been attributed to genetic background differences among individuals; however, such variants have not been well characterized. To identify such...

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Share to LMNA gene
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscular Dystrophies, Limb-Girdle

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Source

Open in PubMed Open full text

Identifiers

PMID: 38732148
DOI: 10.3390/ijms25094930
PMCID: PMC11084688

Genes

CCDC78
LMNA

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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