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Results 1 - 10 of 12 for Nonaka myopathy
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  1. GNE myopathy 
    ... it distal myopathy with rimmed vacuoles (DMRV) or Nonaka myopathy. When a similar disorder was discovered in Iranian ... Inclusion body myopathy, quadriceps-sparing Nonaka distal myopathy Nonaka myopathy QSM Quadriceps-sparing myopathy Genetic Testing Registry: GNE ...
    https://medlineplus.gov/genetics/condition/gne-myopathy - Genetics
  2. Hereditary myopathy with early respiratory failure 
    ... Yasuda R, Kira J, Mitsuhashi S, Noguchi S, Nonaka I, Nishino I. Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure. J Neurol Neurosurg Psychiatry. ...
    https://medlineplus.gov/...y-myopathy-with-early-respiratory-failure - Genetics
  3. Tubular aggregate myopathy 
    ... Kizu R, Bamba M, Goto Y, Matsumoto N, Nonaka I, Nishino I. Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated ...
    https://medlineplus.gov/.../condition/tubular-aggregate-myopathy - Genetics
  4. CAV3-related distal myopathy 
    ... Onodera Y, Haginoya K, Kobayashi K, Iinuma K, Nonaka I, Arahata K, Itoyama Y. Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. Neurology. 2002 Jan 22;58(2):323-5. ...
    https://medlineplus.gov/.../condition/cav3-related-distal-myopathy - Genetics
  5. Actin-accumulation myopathy 
    ... HJ, Beggs AH, Wallgren-Pettersson C, Romero N, Nonaka I, Laing NG. Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). Neuromuscul Disord. 2003 Sep;13(7-8):519-31. doi: 10.1016/s0960-8966(03)00101-9. Citation on PubMed
    https://medlineplus.gov/.../condition/actin-accumulation-myopathy - Genetics
  6. Schwartz-Jampel syndrome 
    ... PubMed ... Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. Am J Hum Genet. 2002 May; ...
    https://medlineplus.gov/genetics/condition/schwartz-jampel-syndrome - Genetics
  7. Intranuclear rod myopathy 
    ... HJ, Beggs AH, Wallgren-Pettersson C, Romero N, Nonaka I, Laing NG. Muscle disease ... rod myopathy, a rare and morphologically striking variant of nemaline ...
    https://medlineplus.gov/genetics/condition/intranuclear-rod-myopathy - Genetics
  8. Kearns-Sayre syndrome 
    ... respiration-deficient muscle fibers from patients with mitochondrial myopathy. Hum Mol Genet. 1994 Jan;3(1):13-9. doi: 10.1093/hmg/3.1.13. Citation on PubMed Yamashita S, Nishino I, Nonaka I, Goto YI. Genotype and phenotype analyses in ...
    https://medlineplus.gov/genetics/condition/kearns-sayre-syndrome - Genetics
  9. Congenital fiber-type disproportion 
    ... 2011.10.008. Citation on PubMed Imoto C, Nonaka I. The significance of type 1 fiber atrophy ( ... Ouvrier R, Sparrow JC, Nishino I, North KN, Nonaka I. Actin mutations are one cause of congenital ...
    https://medlineplus.gov/.../congenital-fiber-type-disproportion - Genetics
  10. Central core disease 
    ... Malicdan MC, Murayama K, Ichihara Y, Kikuchi H, Nonaka I, Noguchi S, Hayashi YK, Nishino I. Central ...
    https://medlineplus.gov/genetics/condition/central-core-disease - Genetics
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