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- W2127269426 abstract "We describe a case of mitochondrial encephalopathy, lactacidosis, and stroke-like episode (MELAS syndrome) associated with ventricular septal defect and meningocele at the L3 level in a 5-year-old girl. Mitochondrial DNA analysis showed point mutation at nucleotide 3271--> TC. The occurrence of heart and neural tube defects in association with usual features of the MELAS syndrome might be explained by either defective high-energy metabolism during early embryogenesis or a common genetic cause." @default.
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- W2127269426 date "2002-02-01" @default.
- W2127269426 modified "2023-09-23" @default.
- W2127269426 title "Spinal dysraphism associated with congenital heart disorder in a girl with MELAS syndrome and point mutation at mitochondrial DNA nucleotide 3271." @default.
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