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Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia..
Orphanet J Rare Dis
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Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes..
Hum Mol Genet
22(22)
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Ho, G, Reichardt, J, Christodoulou, J.
In vitro read-through of phenylalanine hydroxylase (PAH) nonsense mutations using aminoglycosides: a potential therapy for phenylketonuria..
J Inherit Metab Dis
36(6)
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Menezes, MJ, Menezes, MP, Riley, L, Cooper, S, Christodoulou, J.
The need for careful diagnosis of congenital myasthenic syndromes with secondary complex I disorders.
Mitochondrion
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Gaignard, P, Menezes, M, Schiff, M, Bayot, A, Rak, M, Ogier de Baulny, H, Su, C-H, Gilleron, M, Lombes, A, Abida, H, et al.
Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia..
Am J Hum Genet
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