Key result
Novel POMT2 variants (c.700_701insCT, c.812 C > T, and c.170G > A) were identified in three adult-onset LGMDR14 patients, causing aberrant mRNA processing and altered protein stability.
Why the study?
Variants in the POMT2 gene cause diverse disorders, including the relatively rare limb-girdle muscular dystrophy R14, but their pathogenic mechanisms require further characterization.
Population
3 LGMDR14 patients from unrelated Chinese families
Design
Retrospective clinical, pathological, and genetic case series with functional analyses
Authors
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May broaden LGMDR14 genetic testing; extends POMT2 spectrum but remains hypothesis-generating.
Case Report (n=3)
No
The study expands the genetic spectrum of POMT2 variants causing LGMDR14 and demonstrates their structural and functional consequences.
Lv et al. (2025) conducted a case report in Limb-girdle muscular dystrophy R14 (LGMDR14) (n=3). POMT2 variants was evaluated on Genetic, histological, and functional characterization of POMT2 variants. Novel POMT2 variants (c.700_701insCT, c.812 C > T, and c.170G > A) were identified in three adult-onset LGMDR14 patients, causing aberrant mRNA processing and altered protein stability.
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