The incidence of mitochondrial encephalomyopathies in childhood: Clinical features and morphological, biochemical, and DNA anbormalities
Darin N, Oldfors A, Moslemi AR et al (2001) The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA anbormalities. Ann Neurol 49: 377-383
Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA
Sgarbi G, Baracca A, Lenaz G et al (2006) Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA. Biochem J 395: 493-500
ATP6 homoplasmic mutations inhibit and destabilize the human F1F0-ATP synthase without preventing enzyme assembly and oligomerization
Cortés-Hernández P, Vázquez-Memije ME, García JJ (2007) ATP6 homoplasmic mutations inhibit and destabilize the human F1F0-ATP synthase without preventing enzyme assembly and oligomerization. J Biol Chem 282: 1051-1058
Heteroplasmic mtDNA mutation (T-G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high
Tatuch Y, Christodoulou J, Feigenbaum A et al (1992) Heteroplasmic mtDNA mutation (T-G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet 50: 852-858
Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome
Mäkelä-Bengs P, Suomalainen A, Majander A et al (1995) Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome. Pediatr Res 37: 634-639
NARP-MILS syndrome caused by 8993T>G mitochondrial DNA mutation: A clinical, genetic and neuropathological study
Rojo A, Campos Y, Sánchez JM et al (2006) NARP-MILS syndrome caused by 8993T>G mitochondrial DNA mutation: a clinical, genetic and neuropathological study. Acta Neuropathol 111: 610-616
Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G)
Pastores GM, Santorelli FM, Shanske S et al (1994) Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G). Am J Med Genet 50: 265-271
Infantile spasms with basal ganglia MRI hypersignal may reveal mitochondrial disorder due to T8993G MT DNA mutation
Desguerre I, Pinton F, Nabbout R et al (2003) Infantile spasms with basal ganglia MRI hypersignal may reveal mitochondrial disorder due to T8993G MT DNA mutation. Neuropediatrics 34: 265-269
Proton magnetic resonance spectroscopy to study the metabolic changes in the brain of a patient with Leigh syndrome
Takahashi S, Oki J, Miyamoto A et al (1999) Proton magnetic resonance spectroscopy to study the metabolic changes in the brain of a patient with Leigh syndrome. Brain and Development 21: 200-204
Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA
White SL, Shanske S, Biros I et al (1999) Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA. Prenat Diagn 19: 1165-1168
