Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)

BMJ Case Reports

Volumn , Issue , 2009, Pages

  Fernandez Vizarra, Erika ^a   Berardinelli, Angela ^b   Valente, Lucia ^a   Tiranti, Valeria ^a   Zeviani, Massimo ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84896541267     PISSN: None     EISSN: 1757790X     Source Type: Journal    
DOI: 10.1136/bcr.05.2009.1889     Document Type: Article

References (5)

1. DiMauro S, Hirano M. Mitochondrial encephalomyopathies: an update. Neuromuscul Disord 2005; 15: 276-86.
2. Jacobs HT, Turnbull DM. Nuclear genes and mitochondrial translation: a new class of genetic disease. Trends Genet 2005; 21: 312-14.
3. Patton JR, Bykhovskaya Y, Mengesha E, et al. Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine sy nthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridy lation. J Biol Chem 2005; 280: 19823-8.
4. Inbal A, Avissar N, Shaklai M, et al. Myopathy, lactic acidosis, and sideroblastic anemia: a new syndrome. Am J Med Genet 1995; 55: 372-8.
5. Zeharia A, Fischel-Ghodsian N, Casas K, et al. Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene. J Child Neurol 2005; 20: 449-52.