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Case Reports
. 2017;4(4):349-355.
doi: 10.3233/JND-170238.

Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1

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Free article
Case Reports

Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1

Carlyn Kouwenberg et al. J Neuromuscul Dis. 2017.
Free article

Abstract

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.

Keywords: BIN1 mutation; Dominant centronuclear myopathy; childhood onset.

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