TY  - GEN
AU  - Santorelli,F M
AU  - Mak,S C
AU  - Vazquez-Memije,M E
AU  - Shanske,S
AU  - Kranz-Eble,P
AU  - Jain,K D
AU  - Bluestone,D L
AU  - De Vivo,D C
AU  - DiMauro,S
TI  - Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation
SN  - 0031-3998
PY  - 1996///1021
KW  - Adenosine Triphosphate
KW  - biosynthesis
KW  - Adolescent
KW  - Adult
KW  - Child, Preschool
KW  - Cytochrome-c Oxidase Deficiency
KW  - DNA, Mitochondrial
KW  - genetics
KW  - Female
KW  - Humans
KW  - Leigh Disease
KW  - Male
KW  - Mitochondria
KW  - metabolism
KW  - Pedigree
KW  - Phenotype
KW  - Point Mutation
KW  - Pyruvate Dehydrogenase Complex Deficiency Disease
KW  - Syndrome
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1203/00006450-199605000-00028
ER  -