Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud university medical centre, Nijmegen, The Netherlands.
Institut de Génétique et de Biologie Moléculaire et Cellulaire, Centre National de la Recherche Scientifique, Institut National de la Santé et de la Recherche Médicale, Université de Strasbourg Illkirch, Strasbourg, France.
J Neuromuscul Dis. 2017;4(4):349-355. doi: 10.3233/JND-170238.
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.
常染色体显性中轴型先天性肌营养不良（centronuclear myopathy，CNM）由编码 amphiphysin-2（BIN1）的基因突变引起，通常在成年期表现为进行性肌无力。我们报告了一个荷兰家族性常染色体显性 CNM，由 BIN1 突变（c.53T>A（p.Val18Glu））引起，该突变严重损害 amphiphysin-2 的膜管化活性。主要特征是轻度近端无力伴明显肌痛、运动不耐受和大肌肉量，最年轻一代在儿童期发病，伴有轻度认知特征。这表明即使在儿童期，BIN1 突变也应考虑用于孤立性运动不耐受和肌痛患者。
