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GENATLAS PHENOTYPE
last update : 12-03-2012
Symbol CNM3
Location 2q14.3
Name centronuclear myopathy 3
Corresponding gene BIN1
Main clinical features
  • ophthalmoplegia, ptosis, and facial weakness with feeding difficulties, generalized muscle weakness and wasting, began early in life and progressed slowly, resulting in marked ptosis, generalized muscular atrophy, and scoliosis ; at muscle biopsies numerous fibers with central nuclei
    • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function affecting the BAR domain and and a partial truncation of C-terminal SH3 domain abrogating the interaction with DNM2 and its recruitment to the membrane tubules
    Remark(s)