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

J Neuromuscul Dis. 2017;4(4):349-355. doi: 10.3233/JND-170238.

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.

Publication types

  • Case Reports

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Age of Onset
  • Aged
  • Child
  • Family
  • Female
  • Genes, Dominant
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Myopathies, Structural, Congenital / epidemiology
  • Myopathies, Structural, Congenital / genetics*
  • Myopathies, Structural, Congenital / pathology
  • Nuclear Proteins / genetics*
  • Phenotype
  • Tumor Suppressor Proteins / genetics*

Substances

  • Adaptor Proteins, Signal Transducing
  • BIN1 protein, human
  • Nuclear Proteins
  • Tumor Suppressor Proteins