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,...
| Published in: | Autopsy and Case Reports |
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| Main Authors: | , |
| Format: | Article |
| Language: | English |
| Published: |
University of São Paulo
2017-06-01
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| Subjects: | |
| Online Access: | http://www.revistas.usp.br/autopsy/article/view/137698 |