Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1.
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.
['Kouwenberg|Carlyn|C|', 'Bohm|Johann|J|', 'Erasmus|Corrie|C|', 'van Balken|Irene|I|', 'Vos|Sandra|S|', 'Kusters|Benno|B|', 'Kamsteeg|Erik-Jan|EJ|', 'Biancalana|Valerie|V|', 'Koch|Catherine|C|', 'Dondaine|Nicolas|N|', 'Laporte|Jocelyn|J|', 'Voermans|Nicol|N|']
D048868:Adaptor Proteins, Signal Transducing D017668:Age of Onset D000368:Aged D002648:Child D005190:Family D005260:Female D005799:Genes, Dominant D006801:Humans D008297:Male D008875:Middle Aged D009154:Mutation D020914:Myopathies, Structural, Congenital D009687:Nuclear Proteins D010641:Phenotype D025521:Tumor Suppressor Proteins
Dominant centronuclear myopathy childhood onset BIN1 mutation