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» LymeNet Flash » Questions and Discussion » Medical Questions » mitochondrial mutation?

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Author Topic: mitochondrial mutation?
Mlaven323
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Way too scientific for me [Eek!]

Is this description similar to Lyme is any way? If so, I need a VERY simple explanation, as all of this is Greek to me! [confused]

Thanks!


"Mutational analysis excluded the 8344A�G mitochondrial mutation seen in other patients with multiple lipomas (Campen, 2001; Gamez, 1998).

The A�G transition at position 8344 in the tRNA lys gene of mitochondrial DNA has been described in the syndrome myoclonic epilepsy and ragged-red fibers (MERRF).

A number of reports described the presence of multiple lipomas with MERRF harboring the 8344 tRNA mutation (Silvestri, 1992).

Recently, Gamez et al described an unusual syndrome characterized in the patient harboring the 8344 mutation in the tRNA lys gene of mitochondrial DNA (Gamez, 1998).

Although the probands in their study harbored this mutation and had sensory polyneuropathy, they lacked the typical neuromuscular manifestations of MERRF."

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Mlaven323
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