A Case of Sporadic Infantile Histiocytoid Cardiomyopathy Caused by the A8344G (MERRF) Mitochondrial DNA Mutation

By Vallance H.   Jeven G.   Wallace D.   Brown M.  

Pediatric Cardiology, Vol. 25, Iss. 5, 2004-09 ,pp. : 538-540

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Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene

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Genotype–phenotype correlation in the 5703G>A mutation in the tRNA^Asn gene of mitochondrial DNA

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Journal of Inherited Metabolic Disease, Vol. 26, Iss. 5, 2003-07 ,pp. : 507-508

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Intermediate hyperhomocysteinaemia and compound heterozygosity for the common variant c.677C>T and a MTHFR gene mutation

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Isolated thrombosis due to the cystathionine β-synthase mutation c.833T>C (I278T)

By Linnebank M.   Junker R.   Nabavi D.   Linnebank A.   Koch H.  

Journal of Inherited Metabolic Disease, Vol. 26, Iss. 5, 2003-07 ,pp. : 509-511

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