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• W1600370022 startingPage "147" @default.
• W1600370022 abstract "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 characterized by neonatal signs followed by improvement and late childhood reemergence of slowly progressive generalized muscle weakness, elongated face with ptosis and ophthalmoparesis, and histology showing fibers with radiating sarcoplasmic strands (RSS). These patients were the only ones in the series to present this histological marker, which together with previous reports in the literature suggest that, when RSS are present, direct sequencing of DNM2 mutation hot spot regions should be the first step in the molecular diagnosis of CNM, even in sporadic cases." @default.
• W1600370022 created "2016-06-24" @default.
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• W1600370022 date "2015-06-01" @default.
• W1600370022 modified "2023-10-18" @default.
• W1600370022 title "DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy" @default.
• W1600370022 cites W1490669493 @default.
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• W1600370022 doi "https://doi.org/10.1590/s1415-4757382220140238" @default.
• W1600370022 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4530644" @default.
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