title: Biochemical and immunologic studies in a case of congenital myopathy with unusual morphologic features.
abstract: Mitochondria and myosin were isolated from a muscle biopsy of a 9-year-old boy with an unusual congenital myopathy characterized by type I fiber uniformity, jagged Z-line, and transverse network hypertrophy of mitochondria. Biochemical examination of isolated mitochondria showed that only citrate synthase activity was significantly reduced. Electrophoresis of myosin heavy chains and immunoenzymatic analysis of myosin heavy and light chains with antibodies specific to either fast or slow myosins showed that only the slow-type isoform of myosin was detectable. Indirect immunofluorescence of muscle biopsy showed that all muscle fibers homogeneously expressed only the slow type of myosin.
authors.affiliation: National Research Council Unit for Muscle Biology and Physiopathology, University of Padova, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Biral
authors.forename: E
authors.initials: E
authors.lastname: Damiani
authors.forename: E
authors.initials: E
authors.lastname: Scarpini
authors.forename: L
authors.initials: L
authors.lastname: Bet
authors.forename: N
authors.initials: N
authors.lastname: Bresolin
authors.forename: M
authors.initials: M
authors.lastname: Moggio
authors.forename: G
authors.initials: G
authors.lastname: Pellegrini
authors.forename: S
authors.initials: S
authors.lastname: Barbieri
authors.forename: G
authors.initials: G
authors.lastname: Scarlato
mesh_terms: D002648:Child; D004591:Electrophoresis, Polyacrylamide Gel; D006801:Humans; D007158:Immunologic Techniques; D008297:Male; D008931:Mitochondria, Muscle / Q000201:enzymology; D009132:Muscles / Q000378:metabolism / Q000473:pathology; D009135:Muscular Diseases / Q000151:congenital* / Q000378:metabolism / Q000473:pathology; D009218:Myosins / Q000378:metabolism
chemical_list: D009218:Myosins