Nonaka Myopathy (NM)

Alias:

Gne Myopathy

Distal Myopathy with Rimmed Vacuoles

Distal Myopathy, Nonaka Type

Ibm2

Hereditary Inclusion Body Myopathy

Hibm

Dmrv

Inclusion Body Myopathy, Quadriceps-Sparing

Inclusion Body Myopathy Type 2

Quadriceps-Sparing Myopathy

Qsm

Inclusion Body Myopathy, Hereditary, Autosomal Recessive

Myopathy, Distal, with or Without Rimmed Vacuoles

Inclusion Body Myopathy, Autosomal Recessive

Hereditary Inclusion Body Myopathy Type 2

Inclusion Body Myopathy 2

Nonaka Distal Myopathy

Hibm2

Inclusion Body Myopathy 2, Autosomal Recessive, Formerly

Inclusion Body Myopathy 2, Autosomal Recessive

Inclusion Body Myopathy Autosomal Recessive

Myopathy, Distal, with Rimmed Vacuoles

Myopathy, Inclusion Body, Type 2

Quadriceps Sparing Myopathy

Rimmed Vacuole Myopathy

Myopathy, Nonaka

Ibm2, Formerly

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Nonaka Myopathy, also known as gne myopathy, is related to myopathy, myofibrillar, 9, with early respiratory failure and oculopharyngeal muscular dystrophy 1. An important gene associated with Nonaka Myopathy is GNE (Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase). The drugs Glucosamine and gamma-Globulins have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and eye, and related phenotypes are rimmed vacuoles and foot dorsiflexor weakness

Related ID：

MALACARDS：NNK001

OMIM：605820

MESH：C536816