| Congenital muscular dystrophy with complete laminin-alpha2-deficiency, cortical dysplasia, and cerebral white-matter changes in children. | |
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MedLine Citation:
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PMID: 9660506 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Congenital muscular dystrophy consists of Fukuyama congenital muscular dystrophy, Walker-Warburg syndrome, muscle-eye-brain disease, and occidental congenital muscular dystrophy, which is further divided into laminin-alpha2-positive and laminin-alpha2-negative subgroups. These forms of congenital muscular dystrophy are frequently associated with abnormal white-matter changes, whereas the Fukuyama form, Walker-Warburg syndrome, and muscle-eye-brain disease are also frequently found to have polymicrogyria. We now report two infants with complete laminin-alpha2-deficiency who have not only abnormal cerebral white-matter lesions, but also bioccipital polymicrogyria. There are significant similarities in the clinical and cerebral manifestations among the various types of congenital muscular dystrophy. The diagnosis of the Fukuyama form, laminin-alpha2-deficiency, Walker-Warburg syndrome, and muscle-eye-brain disease cannot always be established on radiological studies alone. |
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Authors:
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C Y Tsao; J R Mendell; J Rusin; M Luquette |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of child neurology Volume: 13 ISSN: 0883-0738 ISO Abbreviation: J. Child Neurol. Publication Date: 1998 Jun |
Date Detail:
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Created Date: 1998-10-22 Completed Date: 1998-10-22 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 8606714 Medline TA: J Child Neurol Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 253-6 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, The Ohio State University, Columbus, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Brain
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pathology* Cerebral Cortex / abnormalities* Female Fluorescent Antibody Technique Humans Infant Laminin / deficiency* Magnetic Resonance Imaging Male Muscular Dystrophies / congenital*, diagnosis* Occipital Lobe / abnormalities* |
| Chemical | |
Reg. No./Substance:
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0/Laminin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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