Absence of Dystrophin and Utrophin in a Boy with Severe Muscular Dystrophy

Autor:	Marie-Pierre Chevron, Bernard Echenne, Jacques Demaille
Rok vydání:	1994
Předmět:	musculoskeletal diseases Pathology medicine.medical_specialty biology business.industry animal diseases General Medicine musculoskeletal system medicine.disease Membrane protein Utrophin biology.protein Homologous chromosome Medicine Muscular dystrophy business ITGA7 Dystrophin
Zdroj:	New England Journal of Medicine. 331:1162-1163
ISSN:	1533-4406 0028-4793
Popis:	To the Editor: Utrophin is an autosomally inherited protein encoded by chromosome 6 that is homologous to dystrophin and localized in normal adult muscle exclusively at neuromuscular junctions.1 No clinical disorder is recognized that relates to altered utrophin expression. Rather, utrophin levels have always been reported to increase in the absence of dystrophin in Duchenne's muscular dystrophy1–4 (and unpublished data) or of adhalin (50-kd dystrophin-associated glycoprotein) in severe autosomal recessive muscular dystrophy of childhood2 (and unpublished data). We describe a patient with defects of both dystrophin and utrophin in muscle fibers. Clinically, the patient had early-onset Duchenne's muscular dystrophy. . . .
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::d18343eeacb872a6fc840207322e42b4 https://doi.org/10.1056/nejm199410273311716 Zobrazit plný text záznamu