myopathy with lactic acidosis and sideroblastic anaemia type 2

A rare skeletal muscle- and bone marrow-specific oxidative phosphorylation disorder (OMIM:613561), which is characterised by sideroblastic anaemia, progressive lethargy, muscle weakness, and exercise intolerance associated with persistent lactic acidaemia.
Molecular pathology
Caused by defects in YARS2, which encodes a mitochondrial protein that catalyses the attachment of tyrosine to tRNA.

单词	myopathy with lactic acidosis and sideroblastic anaemia type 2
释义	myopathy with lactic acidosis and sideroblastic anaemia type 2 myopathy with lactic acidosis and sideroblastic anaemia type 2 A rare skeletal muscle- and bone marrow-specific oxidative phosphorylation disorder (OMIM:613561), which is characterised by sideroblastic anaemia, progressive lethargy, muscle weakness, and exercise intolerance associated with persistent lactic acidaemia. Molecular pathology Caused by defects in YARS2, which encodes a mitochondrial protein that catalyses the attachment of tyrosine to tRNA.
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