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

E Bonilla; B Schmidt; C E Samitt; A F Miranda; A P Hays; A B de Oliveira; H W Chang; S Servidei; E Ricci; D S Younger

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

Am J Pathol. 1988 Dec;133(3):440-5.

Authors

E Bonilla¹, B Schmidt, C E Samitt, A F Miranda, A P Hays, A B de Oliveira, H W Chang, S Servidei, E Ricci, D S Younger, et al.

Affiliation

¹ Department of Neurology, College of Physicians & Surgeons, Columbia University, Columbia Presbyterian Medical Center, New York, New York.

PMID: 3059802
PMCID: PMC1880814

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.

Publication types

Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

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*
Muscles / pathology
Muscular Dystrophies / genetics*
Muscular Dystrophies / pathology

Substances

Dystrophin
Muscle Proteins

Grants and funding

NS-11766/NS/NINDS NIH HHS/United States