Mutation Spectrum of Primary Lipid Storage Myopathies

BACKGROUND: Lipid storage myopathies (LSM) constitute an important group of treatable myopathies. Genetic testing is essential for confirming the diagnosis and also helps in explaining phenotypic heterogeneity. The objective of this study was to describe the clinical features and genetic spectrum of...

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Detalles Bibliográficos
Autores principales: Vengalil, Seena, Polavarapu, Kiran, Preethish-Kumar, Veeramani, Nashi, Saraswati, Arunachal, Gautham, Chawla, Tanushree, Bardhan, Mainak, Mohan, Dhaarini, Christopher, Rita, Bevinahalli, Nandeesh, Kulanthaivelu, Karthik, Nishino, Ichizo, Faruq, Mohammad, Nalini, Atchayaram
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8954319/
https://www.ncbi.nlm.nih.gov/pubmed/35342266
http://dx.doi.org/10.4103/aian.aian_333_21

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8954319/
https://www.ncbi.nlm.nih.gov/pubmed/35342266
http://dx.doi.org/10.4103/aian.aian_333_21

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