Key result
Targeted massively parallel sequencing identified possible causative gene mutations in 33% (62/188) of patients with inherited muscle diseases, including 46.2% using the muscular dystrophy panel.
Why the study?
Does targeted massively parallel sequencing combined with histological assessment improve the molecular diagnosis of inherited muscle disorders?
Observational (n=188)
Does targeted massively parallel sequencing combined with histological assessment improve the molecular diagnosis of inherited muscle disorders?
Targeted massively parallel sequencing combined with histological and protein analyses provides a useful and cost-effective method for screening mutations in inherited skeletal muscle diseases.
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Supports targeted panels for inherited myopathies; leaves open prospective validation before routine use.
Nishikawa et al. (2016) conducted an observational in Inherited skeletal muscle diseases (n=188). Targeted massively parallel sequencing using disease-specific gene panels was evaluated on Identification of possible causative gene mutations. Targeted massively parallel sequencing identified possible causative gene mutations in 33% (62/188) of patients with inherited muscle diseases, including 46.2% using the muscular dystrophy panel.
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