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GENATLAS PHENOTYPE
last update : 12-05-2010
Symbol IBM3
Location 17p13.1
HGNC id 5338
Name inclusion body myopathy 3
Corresponding gene MYH2
Main clinical features
  • characterized by congenital joint contractures, external ophthalmoplegia and predominantly proximal muscle weakness with atypical muscle pathology, including rimmed vesicles and filamentous inclusions
  • mild generalized muscle weakness, extraocular muscle involvement and relatively favourable prognosis; muscle biopsy revealed myopathic changes including variability of fibre size, internalized nuclei, and increased interstitial connective and adipose tissue (PMID: 20418530))
    • Genetic determination autosomal dominant
    autosomal recessive
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name myosin heavy polypeptide 2, missense mutation E706 K (one family)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   unknown  
    Remark(s)