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References OMIM Gene GeneReviews HGMD HGNC
last update : 14-03-2018
Symbol NEM12
Location 15q13.3
Name nemaline myopathy 12
Corresponding gene RYR3
Main clinical features
  • long narrow face, high arched palate and bilateral facial weakness, with proximal weakness in all four limbs, mild scapular winging
  • muscle biopsy revealed wide variation in fibre size with type 1 fibre predominance and atrophy with abundant nemaline bodies located in perinuclear and subsarcolemmal areas, and within the cytoplasm
  • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease