" /> Nonaka myopathy - CISMeF





Preferred Label : Nonaka myopathy;

Symbol : NM;

CISMeF acronym : HIBM; IBM2; NM; QSM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Gne myopathy; Inclusion body myopathy 2, autosomal recessive; Inclusion body myopathy, hereditary, autosomal recessive; IBM2; Myopathy, distal, with or without rimmed vacuoles; Nonaka distal myopathy; Inclusion body myopathy, quadriceps-sparing; HIBM; QSM;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene (GNE, 603824.0012);

Laboratory abnormalities : Increased creatine phosphokinase (CPK);

Prefixed ID : #605820;

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27/07/2025


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