title: A novel compound heterozygous dysferlin mutation in Miyoshi myopathy siblings responding to dantrolene.
abstract: Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy characterized by mutations of the dysferlin gene. Although several pairs of homozygous/heterozygous mutations have been reported, few effective treatments of MM are available. We had observed the decreased serum creatine kinase (CK) before and after administration of dantrolene in the elder brother and the increased serum CK before and after discontinuance of the drug on suspicion of drug-induced hepatopathy in the younger sister. We report a novel pair of heterozygous mutations in the 3'-splicing site of exon 26 and the translation site of exon 28 of the dysferlin gene in two siblings, and effective treatment of their MM with dantrolene.
authors.affiliation: Department of Neurology, Keio University School of Medicine, Tokyo, Japan. hidehatt@1999.jukuin.keio.ac.jp
authors.forename: H
authors.initials: H
authors.lastname: Hattori
authors.forename: E
authors.initials: E
authors.lastname: Nagata
authors.forename: Y
authors.initials: Y
authors.lastname: Oya
authors.forename: T
authors.initials: T
authors.lastname: Takahashi
authors.forename: M
authors.initials: M
authors.lastname: Aoki
authors.forename: D
authors.initials: D
authors.lastname: Ito
authors.forename: N
authors.initials: N
authors.lastname: Suzuki
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics; D003620:Dantrolene / Q000627:therapeutic use*; D000073939:Dysferlin; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009124:Muscle Proteins / Q000235:genetics*; D009135:Muscular Diseases / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D035781:Siblings
chemical_list: C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins; D003620:Dantrolene