Document Detail


Fukuyama congenital muscular dystrophy in two Australian female siblings.
MedLine Citation:
PMID:  2227144     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The clinical course of two female siblings with congenital muscular dystrophy is briefly described, and includes congenital cerebral malformations consisting of pachygyria, polymicrogyria and white matter abnormalities. The first sibling died in infancy; the second is now 18 years of age. The changes found at autopsy in the first sibling are identical to MRI changes in the surviving sibling.
Authors:
L M Stern; L Albertyn; J I Manson
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Developmental medicine and child neurology     Volume:  32     ISSN:  0012-1622     ISO Abbreviation:  Dev Med Child Neurol     Publication Date:  1990 Sep 
Date Detail:
Created Date:  1990-12-07     Completed Date:  1990-12-07     Revised Date:  2009-11-11    
Medline Journal Info:
Nlm Unique ID:  0006761     Medline TA:  Dev Med Child Neurol     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  808-13     Citation Subset:  IM    
Affiliation:
Regency Park Centre for Young Disabled, Kilkenny, South Australia.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Australia
Brain / abnormalities*,  pathology
Child
Child, Preschool
Female
Follow-Up Studies
Humans
Infant
Magnetic Resonance Imaging*
Muscular Dystrophies / diagnosis,  genetics*
Neurologic Examination

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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