Research paperMELAS: An original case and clinical criteria for diagnosis
References (61)
- et al.
Maternally inherited myopathy and cardiomyopathy associated with mutation in mitochondrial DNA tRNALeu(UUR)
Lancet
(1991) - et al.
A point mutation in the mitochondrial tRNALeu(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes)
Biochem Biophys Res Commun
(1990) - et al.
Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples
Lancet
(1991) - et al.
A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)
Biochim Biophys Acta
(1991) - et al.
A mitochondrial encephalomyopathy: combined 31P magnetic resonance and biochemical investigation
J Neurol Sci
(1985) - et al.
Two cases of NADH-coenzyme Q reductase deficiency: relationship to MELAS syndrome
J Pediatr
(1987) - et al.
A mitochondrial encephalomyopathy with cardiomyopathy. A case revealing a defect of complex I in the respiratory chain
J Neurol Sci
(1987) - et al.
An autopsy case of mitochondrial encephalomyopathy: biochemical and electron microscopic studies of the brain
J Neurol Sci
(1988) - et al.
Impaired NADH-CoQ reductase activity in a child with moyamoya syndrome
Pediatr Neurol
(1988) - et al.
Mitochondrial encephalomyopathy (MELAS): pathological study and successful therapy with coenzyme Q10 and idebenone
J Neurol Sci
(1989)
A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
Nature
(1990)
Mitochondrial DNA mutation associated with Leber's hereditary optic atrophy
Science
(1988)
Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation
Cell
(1990)
A new mitochondrial disease associated with mitochondrial DNA heteroplasmy
Am J Hum Genet
(1990)
MELAS: clinical features, biochemistry, and molecular genetics
Ann Neurol
(1992)
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation
Neurology
(1992)
Juvenile mitochondrial myopathy, short stature and lactic acidosis: a clinical, biochemical, and ultrastructural study
Diverse clinical disorders associated with morphological abnormalities of mitochondria
Lactic acidosis with mitochondrial myopathy and recurrent coma
Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia
Neurology
(1975)
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a distinctive clinical syndrome
Ann Neurol
(1984)
Familial poliodystrophy, mitochondrial myopathy, and lactic acidemia
Arch Neurol
(1977)
Acute hemiplegia of childhood, lactate-pyruvate acidemia, and mitochondrial disorder
Ann Neurol
(1977)
Reincarnation in cultured muscle of mitochondrial abnormalities
Arch Neurol
(1978)
Reversible alexia, mitochondrial myopathy, and lactic acidemia
Neurology
(1979)
Ultrastructural study of the childhood mitochondrial myopathic syndrome associated with lactic acidosis
Eur J Pediatr
(1982)
Mitochondrial myopathy and cardiomyopathy with neurodegenerative features and multiple brain infarcts
J Neurol Sci
(1982)
Mitochondrial encephalomyopathy: fluctuating symptoms and CT
Neurology
(1984)
Mitochondrial encephalomyopathy with lactate-pyruvate elevations and brain infarction
Neurology
(1984)
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes with acanthocytosis: a clinicopathological study of a unique case
J Neurol
(1986)
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