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Myopathy with lactic "acidosis," hereditary
- ... ISCU deficiency National Organization for Rare Disorders (NORD) MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY; HML PubMed Drugge U, Holmberg M, Holmgren G, ...
- ... small percentage of all cases of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). This condition affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy). The MT-ND5 gene variants that cause MELAS ...
- ... of people with the features of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) have a mutation in the MT-TH gene. This condition is characterized by recurrent severe headaches, muscle weakness (myopathy), hearing loss, stroke-like episodes including a loss ...
- ... can cause the characteristic features of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). Some of these ...