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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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

非那科马症，又称肌病，与肌病、肌纤维蛋白病9、早期呼吸衰竭和眼咽肌营养不良1有关。与非那科马症有关的重要基因是GNE（N-乙酰氨基葡萄糖（UDP-N-乙酰基）-2-异构酶/ N-乙酰氨基葡萄糖激酶）。在该疾病的背景下，已提到药物氨基葡萄糖和γ-球蛋白。附属组织包括骨骼肌和眼睛，相关表型为环状空泡和足背屈肌无力

Related ID：

MALACARDS：NNK001

OMIM：605820

MESH：C536816