| 1 | FLAMM, MDDS4, SUCLA2, SUCLG1
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| Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
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| Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E.
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| J Inherit Metab Dis Inherit Metab Dis. 2015 Oct 16. [Epub ahead of print]
2015
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| 2 | FLAMM, SUCLG1
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| Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: a mitochondrial DNA depletion disorder.
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| Randolph LM, Jackson HA, Wang J, Shimada H, Sanchez-Lara PA, Wong DA, Wong LJ, Boles RG.
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| Mol Genet Metab 102(2):149-52. Epub 2010 Oct 30.
2011
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| 3 | FLAMM, SUCLG1
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| The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein.
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| Rouzier C, Le Guédard-Méreuze S, Fragaki K, Serre V, Miro J, Tuffery-Giraud S, Chaussenot A, Bannwarth S, Caruba C, Ostergaard E, Pellissier JF, Richelme C, Espil C, Chabrol B, Paquis-Flucklinger V.
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| J Med Genet 47(10):670-6. Epub 2010 Aug 7.
2010
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| 4 | FLAMM, SUCLG1
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| Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch.
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| Rivera H, Merinero B, Martinez-Pardo M, Arroyo I, Ruiz-Sala P, Bornstein B, Serra-Suhe C, Gallardo E, Marti R, Moran MJ, Ugalde C, Perez-Jurado LA, Andreu AL, Garesse R, Ugarte M, Arenas J, Martin MA.
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| Mitochondrion 10(4):362-8. Epub 2010 Mar 19.
2010
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| 5 | FLAMM, SUCLG1
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| New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.
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| Valayannopoulos V, Haudry C, Serre V, Barth M, Boddaert N, Arnoux JB, Cormier-Daire V, Rio M, Rabier D, Vassault A, Munnich A, Bonnefont JP, de Lonlay P, Rötig A, Lebre AS.
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| Mitochondrion 10(4):335-41. Epub 2010 Mar 1.
2010
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| 6 | FLAMM,SUCLG1
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| Deficiency of the alpha Subunit of Succinate-Coenzyme A Ligase Causes Fatal Infantile Lactic Acidosis with Mitochondrial DNA Depletion.
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| Ostergaard E, Christensen E, Kristensen E, Mogensen B, Duno M, Shoubridge EA, Wibrand F.
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| Am J Hum Genet 81(2):383-7. Epub 2007 Jun 4. 2007
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| 7 | FLAMM, MMDFS
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| A novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13.
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| Seyda A, Newbold RF, Hudson TJ, Verner A, MacKay N, Winter S, Feigenbaum A, Malaney S, Gonzalez-Halphen D, Cuthbert AP, Robinson BH.
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| Am J Hum Genet 68(2):386-96. 2001
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| 8 | FLAMM
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| Fatal congenital lactic acidosis in two siblings. II. Biochemical studies in vivo and in vitro.
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| Skrede S, Stromme JH, Stokke O, Lie SO, Eldjarn L.
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| Acta Paediatr Scand 60(2):138-45. No abstract available. 1971
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