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Results: 4

1.

Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy.

Carroll CJ, Isohanni P, Pöyhönen R, Euro L, Richter U, Brilhante V, Götz A, Lahtinen T, Paetau A, Pihko H, Battersby BJ, Tyynismaa H, Suomalainen A.

J Med Genet. 2013 Mar;50(3):151-9. doi: 10.1136/jmedgenet-2012-101375. Epub 2013 Jan 12.

PMID:
23315540
[PubMed - indexed for MEDLINE]
2.

A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.

Odièvre MH, Chretien D, Munnich A, Robinson BH, Dumoulin R, Masmoudi S, Kadhom N, Rötig A, Rustin P, Bonnefont JP.

Hum Mutat. 2005 Mar;25(3):323-4. Review.

PMID:
15712224
[PubMed - indexed for MEDLINE]
3.

Cytochrome c oxidase deficiency.

Shoubridge EA.

Am J Med Genet. 2001 Spring;106(1):46-52. Review.

PMID:
11579424
[PubMed - indexed for MEDLINE]
4.

Complex I deficiency: clinical features, biochemistry and molecular genetics.

Fassone E, Rahman S.

J Med Genet. 2012 Sep;49(9):578-90. doi: 10.1136/jmedgenet-2012-101159. Review. Erratum in: J Med Genet. 2012 Oct;49(10):668.

PMID:
22972949
[PubMed - indexed for MEDLINE]

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