Key result
TRIM32 biallelic defects cause limb-girdle muscular dystrophy R8, a sarcotubular myopathy, with two novel mutations identified for genotype-phenotype correlation.
Identifies two novel TRIM32 mutations associated with limb-girdle muscular dystrophy R8 and investigates genotype-phenotype correlations.
No takes yet. Share an insight, caveat, or question.
May refine LGMD R8 diagnosis via expanded panels; leaves genotype-phenotype correlations open pending larger cohorts.
Jerusalem et al. (1973) studied this question. TRIM32 biallelic defects cause limb-girdle muscular dystrophy R8, a sarcotubular myopathy, with two novel mutations identified for genotype-phenotype correlation.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: