Article
Phenotypic variability in a family with a mitochondrial DNA T8993C mutation.
Pediatric neurology - 1 Oct 1998
Suzuki Y, Wada T, Sakai T, Ishikawa Y, Minami R, Tachi N, Saitoh S
Abstract excerpt
Two patients are described in a family with a mitochondrial DNA T8993C point mutation. Patient 1, the proband, was a 4-year-old male, and his clinical features were consistent with those of Leigh syndrome, including lactic acidosis, motor development delay, and symmetric basal ganglia lesions on magnetic resonance imaging (MRI). His mental development was delayed mildly, but he has not demonstrated neurologic...
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