title: A case of Duchenne muscular dystrophy with truncated dystrophin. Significance of a cysteine-rich domain for functional expression of dystrophin protein.
abstract: A Duchenne muscular dystrophy case showed truncated dystrophin (320 kDa) with an isoelectric point slightly shifted towards a more alkaline pH. From the polymerase chain reaction and immunochemical analysis data, the expressed dystrophin protein was predicted to lack the portion comprising the tail of the rod-like domain, the cysteine-rich domain, and the head of the C-terminal domain. These results indicated the functional importance of the cysteine-rich domain in the dystrophin protein.
authors.affiliation: Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Sakuraba
authors.forename: S
authors.initials: S
authors.lastname: Hori
authors.forename: S
authors.initials: S
authors.lastname: Ohtani
authors.forename: S
authors.initials: S
authors.lastname: Hanaka
authors.forename: T
authors.initials: T
authors.lastname: Abe
authors.forename: M
authors.initials: M
authors.lastname: Shimmoto
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
mesh_terms: D000293:Adolescent; D003545:Cysteine; D004247:DNA / Q000737:chemistry; D016189:Dystrophin / Q000032:analysis / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D007150:Immunohistochemistry; D007962:Leukocytes; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D016189:Dystrophin; D004247:DNA; D003545:Cysteine