Key result
Targeted next-generation sequencing identified putative pathogenic mutations in 59% of patients with suspected dysferlinopathy, with DYSF mutations present in 70% of dysferlin-deficient cases.
Population
64 patients clinically or pathologically suspected of having dysferlinopathy, and a cohort of 90 patients…
Design
Cross-sectional
Authors
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Supports NGS in suspected dysferlinopathy; leaves open need for prospective validation before routine adoption.
Observational (n=154)
Comprehensive genetic analysis using next-generation sequencing is important for accurate diagnosis of dysferlinopathy, as mutations in multiple genes can present with dysferlin deficiency.
Izumi et al. (2015) conducted an observational in Suspected dysferlinopathy (n=154). Targeted next-generation sequencing was evaluated on Identification of putative pathogenic mutations. Targeted next-generation sequencing identified putative pathogenic mutations in 59% of patients with suspected dysferlinopathy, with DYSF mutations present in 70% of dysferlin-deficient cases.
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