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

Babi R R Nallamilli,Yinghong Pan,Lisa Sniderman King,Lakshmanan Jagannathan,Vinish Ramachander,Ann Lucas, Jan Markind,Raffaella Colzani,Madhuri Hegde

Annals of clinical and translational neurology（2023）

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摘要

"The Lantern Focused Neuromuscular Panel" enables identification of LGMD subtypes and other myopathies with overlapping clinical features. Prevalence of some MD subtypes was higher than previously reported. Widespread deployment of this comprehensive NGS panel has the potential to ensure early, accurate diagnosis as well as re-define MD epidemiology.

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limb girdle,other myopathies,diagnosis,copy number analysis

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