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Dystrophin immunocytochemistry in muscle culture: detection of a carrier of Duchenne muscular dystrophy.
Am J Med Genet. 1989 Feb; 32(2):268-73.AJ

Abstract

Dystrophin is the gene product which is affected in Duchenne muscular dystrophy (DMD). We studied differentiating clonal muscle cultures derived from normal muscle and from the mother of a DMD patient by immunocytochemistry, using anti-dystrophin antibody. While clonal cultures derived from normal muscle expressed dystrophin in all myotubes, two populations of myogenic cells could be demonstrated in muscle from this possible DMD carrier; in 13 clones the myotubes expressed dystrophin and in 7 clones dystrophin was undetectable. No DNA deletion, duplication or rearrangement was detected by Southern blot analysis of DNA from this family using cDNA probes. Thus, immunocytochemical analysis of clonal muscle cultures may be a useful method to determine whether mothers of DMD patients are carriers of the DMD mutation, especially in the absence of demonstrable gene defects.

Authors+Show Affiliations

Department of Pathology, Columbia University, New York, NY.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

2648829

Citation

Miranda, A F., et al. "Dystrophin Immunocytochemistry in Muscle Culture: Detection of a Carrier of Duchenne Muscular Dystrophy." American Journal of Medical Genetics, vol. 32, no. 2, 1989, pp. 268-73.
Miranda AF, Francke U, Bonilla E, et al. Dystrophin immunocytochemistry in muscle culture: detection of a carrier of Duchenne muscular dystrophy. Am J Med Genet. 1989;32(2):268-73.
Miranda, A. F., Francke, U., Bonilla, E., Martucci, G., Schmidt, B., Salviati, G., & Rubin, M. (1989). Dystrophin immunocytochemistry in muscle culture: detection of a carrier of Duchenne muscular dystrophy. American Journal of Medical Genetics, 32(2), 268-73.
Miranda AF, et al. Dystrophin Immunocytochemistry in Muscle Culture: Detection of a Carrier of Duchenne Muscular Dystrophy. Am J Med Genet. 1989;32(2):268-73. PubMed PMID: 2648829.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Dystrophin immunocytochemistry in muscle culture: detection of a carrier of Duchenne muscular dystrophy. AU - Miranda,A F, AU - Francke,U, AU - Bonilla,E, AU - Martucci,G, AU - Schmidt,B, AU - Salviati,G, AU - Rubin,M, PY - 1989/2/1/pubmed PY - 1989/2/1/medline PY - 1989/2/1/entrez SP - 268 EP - 73 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 32 IS - 2 N2 - Dystrophin is the gene product which is affected in Duchenne muscular dystrophy (DMD). We studied differentiating clonal muscle cultures derived from normal muscle and from the mother of a DMD patient by immunocytochemistry, using anti-dystrophin antibody. While clonal cultures derived from normal muscle expressed dystrophin in all myotubes, two populations of myogenic cells could be demonstrated in muscle from this possible DMD carrier; in 13 clones the myotubes expressed dystrophin and in 7 clones dystrophin was undetectable. No DNA deletion, duplication or rearrangement was detected by Southern blot analysis of DNA from this family using cDNA probes. Thus, immunocytochemical analysis of clonal muscle cultures may be a useful method to determine whether mothers of DMD patients are carriers of the DMD mutation, especially in the absence of demonstrable gene defects. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/2648829/Dystrophin_immunocytochemistry_in_muscle_culture:_detection_of_a_carrier_of_Duchenne_muscular_dystrophy_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1989&volume=32&issue=2&spage=268 DB - PRIME DP - Unbound Medicine ER -