Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1
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Number of pages
SourceJournal of Neuromuscular Diseases, 4, 4, (2017), pp. 349-355
Article / Letter to editor
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Journal of Neuromuscular Diseases
SubjectRadboudumc 0: Other Research DCMN: Donders Center for Medical Neuroscience; Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience; Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience
Autosomal dominant centronuclear myopathy (CNM) caused by mutations in the gene coding for amphiphysin-2 (BIN1) typically presents in adulthood with progressive muscle weakness. We report a Dutch family with AD CNM due to a novel BIN1 mutation (c.53T>A (p.Val18Glu)), strongly impairing the membrane tubulation activity of amphiphysin-2. The main features were mild proximal weakness with pronounced myalgia, exercise intolerance and large muscle mass, with a childhood onset in the youngest generation and mild cognitive features. This suggests BIN1 mutations should be considered in patients with isolated exercise intolerance and myalgia, even in childhood.
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