Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C)

Dysferlinopathy is an uncommon, progressive muscular dystrophy that has a wide phenotypic variability and primarily supportive management (Nguyen et al., 2007; Narayanaswami et al., 2014). Amyloid myopathy is a distinct, rare disorder that can present similarly to inflammatory myopathies and require...

Descripción completa

Detalles Bibliográficos
Autores principales: Swaika, Abhisek, Boczek, Nicole J., Sood, Neha, Guthrie, Kimberly, Klee, Eric W., Agrawal, Ankit, Dimberg, Elliot L., Ailawadhi, Sikander
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4853933/
https://www.ncbi.nlm.nih.gov/pubmed/27195159
http://dx.doi.org/10.1155/2016/9280812

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4853933/
https://www.ncbi.nlm.nih.gov/pubmed/27195159
http://dx.doi.org/10.1155/2016/9280812

Ejemplares similares