Document Detail


Paternal transmission of congenital myotonic dystrophy.
MedLine Citation:
PMID:  9391889     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report a rare case of paternally transmitted congenital myotonic dystrophy (DM). The proband is a 23 year old, mentally retarded male who suffers severe muscular weakness. He presented with respiratory and feeding difficulties at birth. His two sibs suffer from childhood onset DM. Their late father had the adult type of DM, with onset around 30 years. Only six other cases of paternal transmission of congenital DM have been reported recently. We review the sex related effects on transmission of congenital DM. Decreased fertility of males with adult onset DM and contraction of the repeat upon male transmission contribute to the almost absent occurrence of paternal transmission of congenital DM. Also the fathers of the reported congenitally affected children showed, on average, shorter CTG repeat lengths and hence less severe clinical symptoms than the mothers of children with congenital DM. We conclude that paternal transmission of congenital DM is rare and preferentially occurs with onset of DM past 30 years in the father.
Authors:
C E de Die-Smulders; H J Smeets; W Loots; H B Anten; J F Mirandolle; J P Geraedts; C J Höweler
Related Documents :
24908219 - Hemifacial spasm and trigeminal neuralgia in chiari's i malformation with hydrocephalus...
8919389 - A case of double fingernail and ectopic fingernail.
2297419 - Congenital muscular torticollis. a spectrum of disease.
9195459 - Congenital absence of the scaphoid without other congenital abnormality: a case report.
24636849 - Amyloid beta-related angiitis-a case report and comprehensive review of literature of 9...
6839589 - The absent lumbosacral articular process. a report of three cases and review of the lit...
470019 - Two-stage procedure for the management of massive hydronephrosis.
14985619 - Lawsuits and secondhand smoke.
2530749 - Non-hodgkin's lymphoma involving the brain. diagnostic usefulness of stereotactic needl...
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of medical genetics     Volume:  34     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1997 Nov 
Date Detail:
Created Date:  1998-01-30     Completed Date:  1998-01-30     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  930-3     Citation Subset:  IM    
Affiliation:
Department of Clinical Genetics, Maastricht University, The Netherlands.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Adult
DNA / analysis
Female
Humans
Male
Muscle Weakness / congenital,  genetics
Myotonic Dystrophy / congenital,  genetics*
Pedigree
Trinucleotide Repeats
Chemical
Reg. No./Substance:
9007-49-2/DNA
Comments/Corrections

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


Previous Document:  Conotruncal heart defect/microphthalmia syndrome: delineation of an autosomal recessive syndrome.
Next Document:  Misleading linkage results in an NF2 presymptomatic test owing to mosaicism.