Fatal Infantile Cardioencephalomyopathy

MedGen UID:: 893416
•Concept ID:: CN239235
•: Disease or Syndrome

Recent clinical studies

Diagnosis

A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy.

Joost K, Rodenburg R, Piirsoo A, van den Heuvel B, Zordania R, Ounap K
Pediatr Neurol 2010 Mar;42(3):227-30. doi: 10.1016/j.pediatrneurol.2009.10.004. PMID: 20159436

Phenotypic consequences of a novel SCO2 gene mutation.

Verdijk RM, de Krijger R, Schoonderwoerd K, Tiranti V, Smeets H, Govaerts LC, de Coo R
Am J Med Genet A 2008 Nov 1;146A(21):2822-7. doi: 10.1002/ajmg.a.32523. PMID: 18924171

Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy.

Knuf M, Faber J, Huth RG, Freisinger P, Zepp F, Kampmann C
Acta Paediatr 2007 Jan;96(1):130-2. doi: 10.1111/j.1651-2227.2007.00008.x. PMID: 17187620

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Prognosis

A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy.

Mobley BC, Enns GM, Wong LJ, Vogel H
Clin Neuropathol 2009 Mar-Apr;28(2):143-9. doi: 10.5414/npp28143. PMID: 19353847

Phenotypic consequences of a novel SCO2 gene mutation.

Verdijk RM, de Krijger R, Schoonderwoerd K, Tiranti V, Smeets H, Govaerts LC, de Coo R
Am J Med Genet A 2008 Nov 1;146A(21):2822-7. doi: 10.1002/ajmg.a.32523. PMID: 18924171

Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy.

Knuf M, Faber J, Huth RG, Freisinger P, Zepp F, Kampmann C
Acta Paediatr 2007 Jan;96(1):130-2. doi: 10.1111/j.1651-2227.2007.00008.x. PMID: 17187620

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.

Papadopoulou LC, Sue CM, Davidson MM, Tanji K, Nishino I, Sadlock JE, Krishna S, Walker W, Selby J, Glerum DM, Coster RV, Lyon G, Scalais E, Lebel R, Kaplan P, Shanske S, De Vivo DC, Bonilla E, Hirano M, DiMauro S, Schon EA
Nat Genet 1999 Nov;23(3):333-7. doi: 10.1038/15513. PMID: 10545952

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Fatal Infantile Cardioencephalomyopathy

Recent clinical studies

Diagnosis

Prognosis

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