Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 (MLASA2)

Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2(来自ICD-11)
别称:
Mlasa2
Myopathy, Lactic Acidosis, and Sideroblastic Anemia, Type 2
Myopathy with Lactic Acidosis and Sideroblastic Anemia 2
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Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2, also known as mlasa2, is related to sideroblastic anemia and myopathy, lactic acidosis, and sideroblastic anemia. An important gene associated with Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 is YARS2 (Tyrosyl-TRNA Synthetase 2), and among its related pathways/superpathways are tRNA processing and tRNA Aminoacylation. Affiliated tissues include bone marrow and skeletal muscle, and related phenotypes are hepatomegaly and elevated hepatic transaminase
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参考文献
MALACARDS
AR
Unknown
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9
46
8

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