|
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (MLASA1)
|
| MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA |
|
600462
OMIM = Online Medalian Inheritance of Men
|
|
2598
|
| 12q24.33
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| rare autosomal recessive mutation in the pseudouridine synthase-1 gene (PUS1) gene |