Whole-exome sequencing is a new tool for neuromuscular clinicians, and recent findings show that it improves the diagnosis of limb-girdle muscular dystrophy. The technique has a dual role as a tool for diagnosis and discovery in genetically heterogeneous neuromuscular diseases.
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Identification of circulating miRNAs differentially expressed in patients with Limb-girdle, Duchenne or facioscapulohumeral muscular dystrophies
Orphanet Journal of Rare Diseases Open Access 27 December 2022
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Angelini, C. Diagnosis and discovery in limb-girdle muscular dystrophy. Nat Rev Neurol 12, 6–8 (2016). https://doi.org/10.1038/nrneurol.2015.230
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DOI: https://doi.org/10.1038/nrneurol.2015.230
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Identification of circulating miRNAs differentially expressed in patients with Limb-girdle, Duchenne or facioscapulohumeral muscular dystrophies
Orphanet Journal of Rare Diseases (2022)