Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent

Objective: Inherited myopathies comprise more than 200 different individually rare disease-subtypes, but when combined together they have a high prevalence of 1 in 6,000 individuals across the world. Our goal was to determine for the first time the clinical- and gene-variant spectrum of genetic myop...

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Dades bibliogràfiques
Publicat a:Front Neurol
Autors principals: Chakravorty, Samya, Nallamilli, Babi Ramesh Reddy, Khadilkar, Satish Vasant, Singla, Madhu Bala, Bhutada, Ashish, Dastur, Rashna, Gaitonde, Pradnya Satish, Rufibach, Laura E, Gloster, Logan, Hegde, Madhuri
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2020
Matèries:
Neurology
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7674836/
https://ncbi.nlm.nih.gov/pubmed/33250842
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2020.559327
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