Document Detail


Congenital myotonic dystrophy with asymptomatic mother.
MedLine Citation:
PMID:  21813927     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Myotonic dystrophy is an autosomal dominant neuromuscular disorder characterised by extreme pleiotropism and variability in disease expression. A congenital form is rare and is observed in infants born to symptomatic mothers with multisystem involvement. We report a case of a neonate with congenital myotonic dystrophy born to an asymptomatic mother.
Authors:
K M Anand; V M Biradar; J N Panicker; Sheela Nampoothiri
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Indian pediatrics     Volume:  48     ISSN:  0974-7559     ISO Abbreviation:  Indian Pediatr     Publication Date:  2011 Jul 
Date Detail:
Created Date:  2011-08-04     Completed Date:  2012-01-05     Revised Date:  2012-02-22    
Medline Journal Info:
Nlm Unique ID:  2985062R     Medline TA:  Indian Pediatr     Country:  India    
Other Details:
Languages:  eng     Pagination:  565-7     Citation Subset:  IM    
Affiliation:
Department of Neonatology, Lakshmi Hospital, Cochin, Kerala, India. anasan4@gmail.com
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MeSH Terms
Descriptor/Qualifier:
Blotting, Southern
Electromyography
Fathers
Female
Humans
Infant, Newborn
Infant, Premature
Male
Mothers
Myotonic Dystrophy / diagnosis*,  genetics*

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


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