Key result
In a cohort of 30 Chinese patients with limb-girdle muscular dystrophy, 38 genetic variants were identified, including 18 novel variants, expanding the known genetic and clinical spectrum of the disease.
Observational (n=30)
No
This study expands the known clinical spectrum and genetic variability of limb-girdle muscular dystrophy in Chinese patients, providing additional insights into genotype-phenotype correlations.
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Broadens LGMD variant spectrum in Chinese patients; hypothesis-generating for correlations, should not yet change practice.
Wang et al. (2018) conducted an observational in Limb-girdle muscular dystrophy (n=30). Limb-girdle muscular dystrophy was evaluated on Identification of genetic variants and clinical subtypes. In a cohort of 30 Chinese patients with limb-girdle muscular dystrophy, 38 genetic variants were identified, including 18 novel variants, expanding the known genetic and clinical spectrum of the disease.
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