A new point mutation associated with mitochondrial encephalomyopathy

Point mutations In the mitochondrlal gene tRNA leucine(UUR) have been associated with maternally Inherited mItochondrlal myopathies Including the MELAS syndrome (Mitochondrial Myopathy Encephalopathy Lactic acIdosis and Stroke-like episodes). We describe a further mutation in tRNA leucine(UUR) in a...

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Bibliographic Details
Published in:Human molecular genetics 1993-12, Vol.2 (12), p.2081-2087
Main Authors: Morten, K.J., Cooper, J.M., Brown, G.K., Lake, B.D., PIke, D., Poulton, J.
Format: Article
Language:English
Subjects:
Adult
Animals
Base Sequence
Biological and medical sciences
Biopsy
Child
Diseases of striated muscles. Neuromuscular diseases
DNA Primers
Female
genes
Humans
Infant, Newborn
Male
man
Medical sciences
MELAS syndrome
MELAS Syndrome - genetics
Middle Aged
mitochondria
Mitochondrial Encephalomyopathies - genetics
Mitochondrial Encephalomyopathies - pathology
Mitochondrial Myopathies - genetics
Molecular Sequence Data
Mothers
Muscles - pathology
Neurology
Nucleic Acid Conformation
Point Mutation
Polymerase Chain Reaction
RNA, Transfer, Leu - genetics
Sequence Homology, Nucleic Acid
tRNA Leu
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Summary:Point mutations In the mitochondrlal gene tRNA leucine(UUR) have been associated with maternally Inherited mItochondrlal myopathies Including the MELAS syndrome (Mitochondrial Myopathy Encephalopathy Lactic acIdosis and Stroke-like episodes). We describe a further mutation in tRNA leucine(UUR) in a patient with mItochondrlal encephalomyopathy, pigmentary retinopathy, dementia, hypoparathyroidism and diabetes mellltus. The mutation was heteroplasmic In the proband's blood (30%) and muscle (76%); It was present at high levels in the proband's affected mother (50% In muscle), and at low levels (
ISSN:0964-6906
1460-2083
DOI:10.1093/hmg/2.12.2081