Why the study?
Mutations in DYSF are common causes of autosomal recessive limb-girdle muscular dystrophy, but genetic screening of DYSF mutations is rare in Taiwan.
The identification of a novel five-nucleotide deletion in the DYSF gene expands the known genetic spectrum of autosomal recessive limb-girdle muscular dystrophy.
No takes yet. Share an insight, caveat, or question.
Novel DYSF variant in Taiwanese LGMD extends mutation spectrum; leaves open pathogenicity validation and screening utility.
Chen et al. (2023) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: