Key result
Targeted next-generation sequencing combined with clinical and myopathological evaluation achieved a positive genetic diagnostic rate of 68.3% in Chinese patients suspected of LGMDs.
Why the study?
Does targeted next-generation sequencing improve the molecular diagnostic rate in patients suspected of limb-girdle muscular dystrophies?
Observational (n=180)
No
Does targeted next-generation sequencing improve the molecular diagnostic rate in patients suspected of limb-girdle muscular dystrophies?
Targeted next-generation sequencing combined with clinical and myopathological evaluation achieves a high genetic diagnostic rate (68.3%) in Chinese patients with suspected limb-girdle muscular dystrophy, revealing LGMD2B as the most common subtype.
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Supports targeted NGS for LGMD diagnosis in Chinese patients; leaves open broader applicability pending validation.
Yu et al. (2017) conducted an observational in Limb-girdle muscular dystrophies (LGMDs) (n=180). Targeted next-generation sequencing (NGS) was evaluated on Positive genetic diagnostic rate. Targeted next-generation sequencing combined with clinical and myopathological evaluation achieved a positive genetic diagnostic rate of 68.3% in Chinese patients suspected of LGMDs.
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