Why the study?
Around two thirds of families in a Dutch cohort of limb girdle muscular dystrophy patients had received a genetic diagnosis in 2013, leaving remaining families undiagnosed.
Does advanced genetic testing improve the diagnostic yield in families with limb girdle muscular dystrophy?
Does advanced genetic testing improve the diagnostic yield in families with limb girdle muscular dystrophy?
Advanced genetic testing techniques, including next-generation and whole-exome sequencing, can achieve a genetic diagnosis in up to 95% of families with limb girdle muscular dystrophy.
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May improve LGMD diagnostic yield; extends observational data but leaves open prospective validation of outcomes.
Dam et al. (2020) studied this question.
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