Key result
Targeted next generation sequencing identified putative pathogenic ANO5 mutations in both alleles in 4% (33/786) and heterozygous mutations in 3% (23/786) of patients with LGMD or myopathies.
Why the study?
Does targeted next generation sequencing identify ANO5 mutations in patients with LGMD and nonspecific myopathies?
Population
786 undiagnosed patients with limb-girdle muscular dystrophy or nonspecific myopathic features
Design
Cross-sectional
Authors
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Supports NGS panels for nonspecific myopathies; leaves open penetrance and population impact of ANO5 variants.
Observational (n=786)
Does targeted next generation sequencing identify ANO5 mutations in patients with LGMD and nonspecific myopathies?
Targeted NGS is a useful first step to analyze patients with nonspecific myopathic presentations to identify ANO5 mutations and overcome clinical heterogeneity.
Savarese et al. (2015) conducted an observational in Limb-girdle muscular dystrophies (LGMD) or nonspecific myopathies (n=786). ANO5 mutations was evaluated on Putative pathogenic changes in both alleles. Targeted next generation sequencing identified putative pathogenic ANO5 mutations in both alleles in 4% (33/786) and heterozygous mutations in 3% (23/786) of patients with LGMD or myopathies.
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