| Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy. | |
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MedLine Citation:
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PMID: 7477753 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The merosin M-chain (or laminin-alpha 2) is one of three subunits of laminin-2 which is highly expressed in striated muscle and peripheral nerve. Complete lack of laminin-alpha 2 expression in skeletal muscle is the hallmark of one form of congenital muscular dystrophy which is characterized by dysmyelination of the central nervous system (CNS), links to chromosome 6q2 and is common among Caucasians. Laminin-alpha 2 expression was also found to be significantly reduced in Fukuyama congenital muscular dystrophy which links to chromosome 9q3. We report consistently preserved laminin-2 expression, including laminin-alpha 2, as detected by immunofluorescence in skeletal muscle from five patients with Walker-Warburg syndrome which is characterized by congenital muscular dystrophy and, in addition, type II lissencephaly or pachygyria, defective CNS myelination, and ocular dysgenesis. These findings show that in spite of partial phenotypic overlap between Fukuyama CMD and Walker-Warburg syndrome the two disorders are nosologically separate disease entities. They also exclude that Walker-Warburg syndrome is allelic to the common form of congenital muscular dystrophy with laminin-alpha 2 deficiency. |
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Authors:
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T Voit; C A Sewry; K Meyer; R Hermann; V Straub; F Muntoni; T Kahn; R Unsöld; T R Helliwell; R Appleton |
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Publication Detail:
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Type: Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Neuropediatrics Volume: 26 ISSN: 0174-304X ISO Abbreviation: Neuropediatrics Publication Date: 1995 Jun |
Date Detail:
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Created Date: 1995-12-07 Completed Date: 1995-12-07 Revised Date: 2008-01-16 |
Medline Journal Info:
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Nlm Unique ID: 8101187 Medline TA: Neuropediatrics Country: GERMANY |
Other Details:
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Languages: eng Pagination: 148-55 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Heinrich-Heine University of Düsseldorf, Germany. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Antibodies
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diagnostic use Brain / abnormalities* Child, Preschool Chromosomes, Human, Pair 6 Diagnosis, Differential Dystrophin / analysis Humans Immunohistochemistry Laminin / biosynthesis*, deficiency Magnetic Resonance Imaging Muscle, Skeletal / metabolism* Muscular Dystrophies / congenital*, diagnosis*, physiopathology Spectrin / analysis Survival Rate Syndrome Vision Disorders |
| Chemical | |
Reg. No./Substance:
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0/Antibodies; 0/Dystrophin; 0/Laminin; 12634-43-4/Spectrin |
| Comments/Corrections | |
Comment In:
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Neuropediatrics. 1996 Oct;27(5):279-80
[PMID:
8971752
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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