Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in FKRP Gene

Limb-girdle muscular dystrophy R9 (LGMD2I, LGMDR9) is an autosomal recessive disorder caused by pathogenic variants in the fukutin-related protein (FKRP) gene. We describe a 17 year old boy with LGMDR9 whose symptoms began at age 5 years. Muscle histopathology, immunostaining, and western blotting w...

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Detalles Bibliográficos
Autores principales: Willis, Erin, Moore, Steven A., Cox, Mary O., Stefans, Vikki, Aravindhan, Akilandeswari, Gokden, Murat, Veerapandiyan, Aravindhan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9087226/
https://www.ncbi.nlm.nih.gov/pubmed/35557983
http://dx.doi.org/10.1177/2329048X221097518

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