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

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 Neuromuscula...

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Detalles Bibliográficos
Autores principales:	Nallamilli, Babi R. R., Pan, Yinghong, Sniderman King, Lisa, Jagannathan, Lakshmanan, Ramachander, Vinish, Lucas, Ann, Markind, Jan, Colzani, Raffaella, Hegde, Madhuri
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2023
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10647006/ https://www.ncbi.nlm.nih.gov/pubmed/37688281 http://dx.doi.org/10.1002/acn3.51896

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