Congenital Muscular Dystrophy

Knaap, Marjo S. van der; Valk, Jacob

doi:10.1007/978-3-662-03078-3_47

Magnetic Resonance of Myelin, Myelination, and Myelin Disorders 1995

DOI: 10.1007/978-3-662-03078-3_47

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Congenital Muscular Dystrophy

Marjo S. van der Knaap

Jacob Valk

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Cited by 5 publications

References 60 publications

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Diagnostischer Stellenwert eines kranialen MRT bei kongenitaler Muskeldystrophie

et al. 1998

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Zusammenfassung: Ungef~ihr 30 bis 50% aller Patienten mit kongenitaler Muskeldystrophie weisen einen Mangel ah Merosin (Laminin-2-oL2), einen Bestandteil der ex-trazellul~iren Matrix, auf. Diese Erkrankung geht bei der Mehrzahl der Patienten mit einer Leukenzephalopathie einher, die durch ein lo'aniales MRT diagnostiziert werden kann. lm folgenden stellen wir ein Kleinkind mit unklarer kongenitaler Muskeldystrophie und akuter kongestiver Herzinsuffizienz vor, bei dem durch ein kraniales MRT eine schnelle und nichtinvasive Einordnung der Grunderkrankung m6glich war. SchlªKongenitale Muskeldystrophie 9 Leukenzephalopathie 9 MRT 9 Dilatatire Kardiomyopathie -Merosin Brain MRI Imaging in Congenital Muscular DystrophyAbstract: About half of the cases of classical congenital muscular dystrophy (CMD) are due to a deficiency of the c,2 chain of laminin-2 (Merosin). The protein is part of the extracellular matrix. In the majority of cases the patients present with cerebral white matter changes on brain MRT. We report on an infant with congenital muscular dystrophy and acute congestive heart failure. Brain MRI allowed a quick and non-invasive classification of the underlying disease.

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Diagnostischer Stellenwert eines kranialen MRT bei kongenitaler Muskeldystrophie

et al. 1998

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High resolution magnetic resonance imaging of the brain in the dy/dy mouse with merosin-deficient congenital muscular dystrophy

Dubowitz

Tyszka

Sewry

et al. 2000

Neuromuscular Disorders

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Sequential study of central and peripheral nervous system involvement in an infant with merosin-deficient congenital muscular dystrophy

Pennock

Goodwin

Sewry

et al. 1996

Neuromuscular Disorders

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Congenital Muscular Dystrophy

Cited by 5 publications

References 60 publications

Diagnostischer Stellenwert eines kranialen MRT bei kongenitaler Muskeldystrophie

Diagnostischer Stellenwert eines kranialen MRT bei kongenitaler Muskeldystrophie

High resolution magnetic resonance imaging of the brain in the dy/dy mouse with merosin-deficient congenital muscular dystrophy

Sequential study of central and peripheral nervous system involvement in an infant with merosin-deficient congenital muscular dystrophy

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