| Congenital muscular dystrophy: a clinicopathologic report of 24 cases. | |
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MedLine Citation:
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PMID: 7069529 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Congenital muscular dystrophy (muscular dystrophy presenting from birth) with a wide spectrum of clinical severity is reported in 24 patients. Progression of symptoms was evident, leading to significant motor handicap in all patients and death in eight cases. Muscle enzyme studies did not always correlate with the severity of the disease. In six cases, initial muscle biopsy showed only minimal, nonspecific abnormalities; however, characteristic dystrophic changes were evident on repeat biopsies. Histochemical and electron microscopic studies did not show consistent changes, except type I predominance in a few cases. Evidently the condition is rarely, if ever, benign and the clinical course cannot be predicted from the initial presentation or early pathologic findings. Clinical, laboratory and pathologic characteristics are outlined for the diagnosis of this disorder. |
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Authors:
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J B McMenamin; L E Becker; E G Murphy |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: The Journal of pediatrics Volume: 100 ISSN: 0022-3476 ISO Abbreviation: J. Pediatr. Publication Date: 1982 May |
Date Detail:
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Created Date: 1982-06-24 Completed Date: 1982-06-24 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0375410 Medline TA: J Pediatr Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 692-7 Citation Subset: AIM; IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Biopsy Child Child, Preschool Creatine Kinase / metabolism Electromyography Female Humans Infant Male Muscles / enzymology, physiopathology Muscular Dystrophies / congenital*, pathology, physiopathology Neural Conduction |
| Chemical | |
Reg. No./Substance:
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EC 2.7.3.2/Creatine Kinase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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