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Ungefähr 30 bis 50% aller Patienten mit kongenitaler Muskeldystrophie weisen einen Mangel an Merosin (Laminin-2-α2), einen Bestandteil der extrazellulären Matrix, auf. Diese Erkrankung geht bei der Mehrzahl der Patienten mit einer Leukenzephalopathie einher, die durch ein kraniales MRT diagnostiziert werden kann. Im folgenden stellen wir ein Kleinkind mit unklarer kongenitaler Muskeldystrophie und...
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