A rare case of centronuclear myopathy with DNM2 mutation: genotype-phenotype correlation

• Glavni autori: Amir Ghorbani Aghbolaghi (Autor), Mirna Lechpammer (Autor)
• Format: Knjiga
• Izdano: University of São Paulo, 2017-06-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

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,...