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DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy

Abath Neto,Osorio; Martins,Cristiane de Araújo; Carvalho,Mary; Chadi,Gerson; Seitz,Katia Werneck; Oliveira,Acary Souza Bulle; Reed,Umbertina Conti

Centronuclear myopathy (CNM) is a rare congenital muscle disease characterized by fibers with prominent centralized nuclei in muscle biopsies. The disease is clinically heterogeneous, ranging from severe neonatal hypotonic phenotypes to adult-onset mild muscle weakness, and can have multiple modes of inheritance in association with various genes, including MTM1, DNM2, BIN1 and RYR1. Here we analyzed 18 sporadic...

Date: 2015 | Origin: Oasisbr

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