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- W2024651277 abstract "We report clinical, biopsy and autopsy findings in a merosin-deficient congenital muscular dystrophy (CMD) infant with abnormal cortical gyration. Brain showed polymicrogyria and occipital agyria with marginal neuroglial heterotopia and inferior vermis hypoplasia. There was a normal pattern of myelination consistent with early age. Laminin α2 chain was also absent in myocardium, brain pial-glial membrane, brain and skin blood vessels as well as intramuscular and skin nerves. Occasional basal lamina gaps were found in muscle fibres but not in brain–blood vessels. This is the first autopsy study in a merosin-deficient CMD case with abnormal cortical gyration." @default.
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- W2024651277 date "1999-03-01" @default.
- W2024651277 modified "2023-09-25" @default.
- W2024651277 title "Merosin-deficient congenital muscular dystrophy associated with abnormal cerebral cortical gyration: an autopsy study" @default.
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- W2024651277 doi "https://doi.org/10.1016/s0960-8966(98)00112-6" @default.
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