Consulta: creatorFacets:"Zanoteli,Edmar"
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Data/hora: 03/06/2024 01:18:56

DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy
Provedor de dados: 74
Autores: Abath Neto,Osorio; Martins,Cristiane de Araújo; Carvalho,Mary; Chadi,Gerson; Seitz,Katia Werneck; Oliveira,Acary Souza Bulle; Reed,Umbertina Conti; Laporte,Jocelyn; Zanoteli,Edmar.
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 patients with clinical and histological diagnosis of CNM and sequenced the DNM2 gene, which codes for the dynamin 2 protein. We found DNM2 missense mutations in two patients, both in exon 8, one known (p.E368K) and one novel (p.F372C), which is found in a position of presumed pathogenicity and appeared de novo. The patients had similar phenotypes...
Tipo: Info:eu-repo/semantics/report
Palavras-chave: Centronuclear myopathy; DNM2; Dynamin 2; Congenital myopathy.
Ano: 2015
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000200147