Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients

OBJECTIVE: Limb‐girdle muscular dystrophies (LGMDs), one of the most heterogeneous neuromuscular disorders (NMDs), involves predominantly proximal‐muscle weakness with >30 genes associated with different subtypes. The clinical‐genetic overlap among subtypes and with other NMDs complicate disease‐...

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Detalles Bibliográficos
Autores principales: Nallamilli, Babi Ramesh Reddy, Chakravorty, Samya, Kesari, Akanchha, Tanner, Alice, Ankala, Arunkanth, Schneider, Thomas, da Silva, Cristina, Beadling, Randall, Alexander, John J., Askree, Syed Hussain, Whitt, Zachary, Bean, Lora, Collins, Christin, Khadilkar, Satish, Gaitonde, Pradnya, Dastur, Rashna, Wicklund, Matthew, Mozaffar, Tahseen, Harms, Matthew, Rufibach, Laura, Mittal, Plavi, Hegde, Madhuri
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292381/
https://www.ncbi.nlm.nih.gov/pubmed/30564623
http://dx.doi.org/10.1002/acn3.649

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