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GENATLAS PHENOTYPE
last update : 09-05-2018
Symbol NEM1
Location 1q21.3
Name nemaline myopathy 1
Corresponding gene TPM3
Main clinical features
  • characterized by infantile onset of a slowly progressive weakness of the facial, bulbar, neck flexor, respiratory and proximal limb muscles with a later distal involvement, arthrogryposis, multiple pterygia
  • associated with the presence of nemaline bodies in the muscle fibers, slow type 1
  • Genetic determination autosomal dominant
    Related entries congenital fiber type disproportion often associated in the families of nemaline myopathy (Clarke 2008)
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name alpha tropomyosin 3 (TPM3)
    Remark(s)
  • specifically, the TPM3-R167H mutations decreased cooperative thin filament activation with simultaneous reductions in myosin cross-bridge number and force production (PMID: 22798622))