Cargando…
A rare case of centronuclear myopathy with DNM2 mutation: genotype–phenotype correlation
Centronuclear myopathy (CNM) is a group of rare genetic muscle disorders characterized by muscle fibers with centrally located nuclei. The most common forms of CNM have been attributed to X-linked recessive mutations in the MTM1 gene; autosomal-dominant mutations in the DNM2 gene-encoding dynamin-2,...
| Autores principales: | , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
São Paulo, SP: Universidade de São Paulo, Hospital Universitário
2017
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5507568/ https://www.ncbi.nlm.nih.gov/pubmed/28740838 http://dx.doi.org/10.4322/acr.2017.020 |