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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Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Ann Clin Transl Neurol
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: John Wiley and Sons Inc. 2018
Aiheet:
Research Articles
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6292381/
https://ncbi.nlm.nih.gov/pubmed/30564623
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.649
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