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Limb Girdle Muscular Dystrophy due to Digenic Inheritance of DES and CAPN3 Mutations

We report the clinical and genetic analysis of a 63-year-old man with progressive weakness developing over more than 20 years. Prior to his initial visit, he underwent multiple neurological and rheumatological evaluations and was treated for possible inflammatory myopathy. He did not respond to any...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Case Rep Neurol
Egile Nagusiak: Peddareddygari, Leema Reddy, Oberoi, Kinsi, Grewal, Raji P.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: S. Karger AG 2018
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6180278/
https://ncbi.nlm.nih.gov/pubmed/30323756
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000492664
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