| Muscle involvement in Walker-Warburg syndrome. Clinicopathologic features of four cases. | |
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MedLine Citation:
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PMID: 8249887 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Walker-Warburg syndrome is a lethal autosomal recessive disorder characterized by anomalies of the central nervous system and the eye. Recently, elevation of muscle enzymes and congenital muscular dystrophy have been found to contribute to the diagnosis of this syndrome. The authors studied two pairs of siblings with Walker-Warburg syndrome, offspring of consanguineous parents from two unrelated families. The patients had hydrocephalus, congenital glaucoma, elevated muscle enzymes, and hypotonicity. The histologic and ultrastructural muscular changes were consistent with congenital muscular dystrophy. |
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Authors:
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C Lichtig; R M Ludatscher; H Mandel; R Gershoni-Baruch |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of clinical pathology Volume: 100 ISSN: 0002-9173 ISO Abbreviation: Am. J. Clin. Pathol. Publication Date: 1993 Nov |
Date Detail:
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Created Date: 1993-12-27 Completed Date: 1993-12-27 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 0370470 Medline TA: Am J Clin Pathol Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 493-6 Citation Subset: AIM; IM |
Affiliation:
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Department of Pathology, Rambam Medical Center, Haifa, Israel. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Brain
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abnormalities* Child Child, Preschool Consanguinity* Eye Abnormalities / complications, pathology* Female Humans Infant Male Muscles / abnormalities, enzymology, ultrastructure Muscular Dystrophies / complications, congenital, pathology* Nuclear Family* |
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