Phenotypic and genotypic analysis of limb-Girdle muscular dystrophy type 2B

Dysferlinopathies are rare autosomal recessive muscular dystrophies caused by mutation in the dysferlin (DYSF) gene, resulting in varied phenotype. In this case report, we review a 26-year-old diabetic male patient who presented to hospital suffering from progressive muscle weakness. We confirmed th...

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Detalles Bibliográficos
Autores principales: Aldosari, Khalid H., Al-Ghamdi, Sameer, Alkhathlan, Khalid M., Alkhalidi, Hisham M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Riyadh : Armed Forces Hospital 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8015473/
https://www.ncbi.nlm.nih.gov/pubmed/32683403
http://dx.doi.org/10.17712/nsj.2020.3.20200002

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8015473/
https://www.ncbi.nlm.nih.gov/pubmed/32683403
http://dx.doi.org/10.17712/nsj.2020.3.20200002

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