myopathy—lactic acidosis—sideroblastic anaemia 2

Home » Classic Medicine » Syndromes » myopathy—lactic acidosis—sideroblastic anaemia 2
myopathy—lactic acidosis—sideroblastic anaemia 22016-11-27T13:16:07+00:00

myopathy—lactic acidosis—sideroblastic anaemia 2

METABOLISM

A rare skeletal muscle- and bone marrow-specific oxidative phosphorylation disorder (OMIM:613561) characterised by sideroblastic anaemia, progressive lethargy, muscle weakness, exercise intolerance, and persistent lactic acidosis.

Molecular pathology Defects in YARS2, which encodes a mitochondrial protein that catalyses the attachment of tyrosine to tRNA, cause myopathy—lactic acidosis—sideroblastic anaemia 2. 

References http://www.uniprot.org/uniprot/Q9Y2Z4

http://www.omim.org/entry/613561

Leave A Comment

This site uses Akismet to reduce spam. Learn how your comment data is processed.