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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,...
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| Publicado no: | Autops Case Rep |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
São Paulo, SP: Universidade de São Paulo, Hospital Universitário
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5507568/ https://ncbi.nlm.nih.gov/pubmed/28740838 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4322/acr.2017.020 |
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