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Prenatal analysis in two suspected cases of glutathione synthetase deficiency

✍ Scribed by E. Erasmus; L. J. Mienie; W. N. Vries; W. J. Wet; B. Carlsson; A. Larsson


Book ID
104901706
Publisher
Springer
Year
1993
Tongue
English
Weight
391 KB
Volume
16
Category
Article
ISSN
0141-8955

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We report the outcome of two prenatal analyses for the T to G mutation at nucleotide 8993 in the mitochondrial DNA. This mutation is associated with neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) and the neurodegenerative condition, Leigh syndrome. One prospective mother was the