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Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies

8 Sept 2023

Abstract excerpt

OBJECTIVE: Clinical and genetic heterogeneities make diagnosis of limb-girdle muscular dystrophy (LGMD) and other overlapping disorders of muscle weakness complicated and expensive. We aimed to develop a comprehensive next generation sequence-based multi-gene panel ("The Lantern Focused Neuromuscular Panel") to detect both sequence variants and copy number variants in one assay. METHODS: Patients with clinical...

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Share to Cardiomyopathy and Myosin Studies
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PMID: 37688281
DOI: 10.1002/acn3.51896

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