Article
Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation.
Pediatric research - 1 May 1996
Santorelli F M, Mak S C, Vazquez-Memije M E, Shanske S, Kranz-Eble P, Jain K D, Bluestone D L, De Vivo D C, DiMauro S
Abstract excerpt
The mitochondrial DNA (mtDNA) point mutation T8993G has been associated with maternally inherited Leigh syndrome (MILS) when very abundant (> 95%). MILS patients are usually severely affected and die in early infancy. In 1993, a novel T8993C point mutation was described in a juvenile form of Leigh syndrome (LS) characterized by a less aggressive clinical course. We describe four unrelated T8993C patients who had...
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