Key result
A novel BIN1 mutation (c.53T>A) in a Dutch family caused autosomal dominant centronuclear myopathy characterized by mild proximal weakness, pronounced myalgia, and childhood onset.
Case Report
BIN1 mutations should be considered in patients presenting with isolated exercise intolerance and myalgia, even with childhood onset.
Extends BIN1 phenotypes to include myalgia-dominant cases; single case report leaves causality and testing indications open.
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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Kouwenberg et al. (2017) conducted a case report in Autosomal dominant centronuclear myopathy. BIN1 mutation (c.53T>A (p.Val18Glu)) was evaluated on Clinical features and membrane tubulation activity. A novel BIN1 mutation (c.53T>A) in a Dutch family caused autosomal dominant centronuclear myopathy characterized by mild proximal weakness, pronounced myalgia, and childhood onset.
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