Whole-exome sequencing identifies TRIM72 as a candidate gene for autosomal recessive limb-girdle muscular dystrophy

Whole-exome sequencing identifies TRIM72 as a candidate gene for autosomal recessive limb-girdle muscular dystrophy

Abstract Background Limb-girdle muscular dystrophies (LGMDs) constitute a genetically diverse group of disorders characterized by progressive proximal muscle weakness and atrophy. Despite advances in genetic diagnostics, numerous cases remain unresolved due to extensive genetic heterogeneity, emphas...

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Bibliographic Details
Main Authors: Abdelaziz Tlili, Abdullah Al Mutery
Format: Article
Language:English
Published: BMC 2025-08-01
Series:Human Genomics
Subjects:
Limb-girdle muscular dystrophies
Autosomal recessive
TRIM72 gene
Frameshift mutation
Online Access:https://doi.org/10.1186/s40246-025-00809-7
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