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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| Format: | Book |
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University of São Paulo,
2017-06-01T00:00:00Z.
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