Document Detail


An isolated case of Duchenne muscular dystrophy (DMD) in a female with a deletion of DMD cDNA.
MedLine Citation:
PMID:  2289321     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
An isolated case of Duchenne muscular dystrophy (DMD) in a female who has a deletion of the DMD locus is described. This patient was a 26-year-old woman born to unrelated, healthy parents. She was initially examined at age 6 because of a waddling gait. At age 15, pseudohypertrophy of calves and pes equinus were observed along with proximal muscular weakness and wasting. Her serum creatine kinase level was high and histological evidence of muscular dystrophy was apparent on muscle biopsy. The patient was ambulant at age 15 and progression of motor disability has been slow. Chromosomal studies revealed a normal karyotype, and mental retardation is moderate. DNA analysis at age 26 revealed that she has a deletion of DMD cDNA 8 mapped within Xp21 and is heterozygous for the deletion. Since diagnosis of DMD is now dependent on the evidence of mutation or deletion at Xp21, this patient is thought to have a form of DMD. Expression of the DMD gene in the heterozygous state might be due to random but unequal lyonization.
Authors:
M Yoshioka; Y Yamamoto; J Furuyama
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinical genetics     Volume:  38     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1990 Dec 
Date Detail:
Created Date:  1991-04-04     Completed Date:  1991-04-04     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  474-8     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Kobe General Hospital, Japan.
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MeSH Terms
Descriptor/Qualifier:
Adult
Chromosome Deletion*
Cloning, Molecular*
DNA / genetics
DNA Probes*
Female
Gene Expression Regulation / physiology*
Heterozygote Detection
Humans
Linkage (Genetics) / genetics*
Muscular Dystrophies / genetics*
Sex Chromosome Aberrations / genetics*
Chemical
Reg. No./Substance:
0/DNA Probes; 9007-49-2/DNA

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


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