Why the study?
Does next-generation sequencing (MotorPlex) improve molecular diagnosis in patients with undiagnosed muscular dystrophies and myopathies?
Does next-generation sequencing (MotorPlex) improve molecular diagnosis in patients with undiagnosed muscular dystrophies and myopathies?
NGS-based platforms like MotorPlex provide a high diagnostic yield for heterogeneous genetic muscle diseases, supporting their use as a first-tier diagnostic approach.
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Supports NGS panels in undiagnosed myopathies; leaves open first-tier adoption without prospective validation.
Savarese et al. (2016) studied this question.
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