Article
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.
Annals of neurology - 1 Dec 2007
Bitoun Marc, Bevilacqua Jorge A, Prudhon Bernard, Maugenre Svetlana, Taratuto Ana Lia, Monges Soledad, Lubieniecki Fabiana, Cances Claude, Uro-Coste Emmanuelle, Mayer Michèle, Fardeau Michel, Romero Norma B, Guicheney Pascale
Abstract excerpt
We report four heterozygous dynamin 2 (DNM2) mutations in five centronuclear myopathy patients aged 1 to 15 years. They all presented with neonatal hypotonia with weak suckling. Thereafter, their phenotype progressively improved. All patients demonstrated muscle weakness prominent in the lower limbs, and most of them also presented with facial weakness, open mouth, arched palate, ptosis, and ophthalmoparesis....
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