Lanean...
Novel Desmin Mutation Causing Myofibrillar Myopathy in a Hmong Family
Myofibrillar myopathies (MFM) are a clinically and genetically heterogenous group of inherited myopathies characterized by aggregation of Z-disc proteins. Mutations in desmin account for ~7% of MFM. We report here a Hmong family with an autosomal dominant MFM caused by a novel variant in the desmin...
Gorde:
| Argitaratua izan da: | Front Neurol |
|---|---|
| Egile Nagusiak: | , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Frontiers Media S.A.
2020
|
| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6965354/ https://ncbi.nlm.nih.gov/pubmed/31998224 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2019.01375 |
| Etiketak: |
Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!
|