Familial clustering strongly suggests that the phenotypic variation of the 8344 A>G lys mitochondrial tRNA mutation is encoded in cis.

doi:10.1111/j.1469-1809.2012.00711.x

Article

Familial clustering strongly suggests that the phenotypic variation of the 8344 A>G lys mitochondrial tRNA mutation is encoded in cis.

Annals of human genetics - 1 Jul 2012

Kazakos Kyriakos, Kotsa Kalliopi, Yavropoulou Maria, Dionyssopoulos Alexander, Grabs Rosemary, Yovos John, Polychronakos Constantin

Abstract excerpt

The maternally inherited 8344 A>G mutation in the mitochondrial Lys tRNA is classically associated with the myoclonic epilepsy, ragged-red muscle fiber (MERRF) syndrome. Multiple lipomatosis (Madelung's disease) is occasionally described. Here we report a large kindred with a statistically significant clustering of very unusual clinical manifestations. We have studied a Greek family that includes seven...

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Familial clustering strongly suggests that the phenotypic variation of the 8344 A>G lys mitochondrial tRNA mutation is encoded in cis.

Abstract excerpt

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Familial clustering strongly suggests that the phenotypic variation of the 8344 A>G lys mitochondrial tRNA mutation is encoded in cis.

Abstract excerpt

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