Document Detail


Ullrich's congenital atonic sclerotic muscular dystrophy. A case report.
MedLine Citation:
PMID:  2651568     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A 5-year old girl with Ullrich's atonic-sclerotic muscular dystrophy is reported and 16 previously reported cases are reviewed. The clinical features, in particular proximal contractures, distal hyperextensibility, mild dysmorphism and hyperhidrosis, allow recognition of this subtype of congenital muscular dystrophy, which has no specific pathological characteristics. There is evidence in favour of an autosomal recessive mode of inheritance.
Authors:
L De Paillette; J Aicardi; F Goutières
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Journal of neurology     Volume:  236     ISSN:  0340-5354     ISO Abbreviation:  J. Neurol.     Publication Date:  1989 Feb 
Date Detail:
Created Date:  1989-05-31     Completed Date:  1989-05-31     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  0423161     Medline TA:  J Neurol     Country:  GERMANY, WEST    
Other Details:
Languages:  eng     Pagination:  108-10     Citation Subset:  IM    
Affiliation:
Department of Paediatrics, Hôpital des Enfants Malades, Paris, France.
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MeSH Terms
Descriptor/Qualifier:
Child, Preschool
Female
Humans
Male
Muscular Dystrophies / congenital*,  physiopathology

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


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