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PMID: 3059802 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Normal and dystrophin-deficient muscle fibers in carriers of the gene for Duchenne muscular dystrophy.

The American journal of pathology ·Vol. 133 ·No. 3 ·1988-12-00 ·Pages 440-5

Bonilla E, Schmidt B, Samitt CE, Miranda AF, Hays AP, de Oliveira AB, Chang HW, Servidei S, Ricci E, Younger DS

Abstract

Dystrophin is the gene product that is affected in Duchenne muscular dystrophy (DMD). Antibodies against dystrophin were used to study the protein in muscle fibers of carriers of the gene. The results showed that DMD carriers have normal and dystrophin-deficient fibers. Dystrophin immunohistochemistry may be helpful for the detection of DMD carriers.

MeSH Terms
Adult Biopsy Dystrophin Female Fluorescent Antibody Technique Frozen Sections Genetic Carrier Screening/methods Heterozygote Humans Immunohistochemistry Middle Aged Muscle Proteins/analysis Muscles/analysis,pathology Muscular Dystrophies/genetics,pathology
Chemicals
Dystrophin Muscle Proteins
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
Bonilla E
Department of Neurology, College of Physicians & Surgeons, Columbia University, Columbia Presbyterian Medical Center, New York, New York.
Schmidt B
Samitt C E
Miranda A F
Hays A P
de Oliveira A B
Chang H W
Servidei S
Ricci E
Younger D S
References (8)
8 references, click to expand
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Article Info
Journal
The American journal of pathology
Abbr.
Am J Pathol
ISSN
0002-9440
Published
1988-12-00
Pages
440-5
Language
English
Region
United States
NLM ID
0370502
PMCID
PMC1880814
Subset
IM
Grants
NINDS NIH HHS · NS-11766 · United States
External Links
PubMed source PMC Full Text View journal details
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