title: Autosomal dominant limb-girdle muscular dystrophy with ankle joint contracture.
abstract: We herein describe a Japanese family suffering from autosomal dominant limb-girdle muscular dystrophy showing a later onset and a predilection for males. All patients developed a plantar flexion contracture of the ankles when no distal muscular weakness was evident. The serum creatine kinase activity was remarkably elevated to 55 times the normal value. These clinical features suggest a novel phenotype.
authors.affiliation: Department of Neurology, Neurological Institute, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Tanaka
authors.forename: T
authors.initials: T
authors.lastname: Yamada
authors.forename: H
authors.initials: H
authors.lastname: Kikuchi
authors.forename: Y
authors.initials: Y
authors.lastname: Mitsunaga
authors.forename: H
authors.initials: H
authors.lastname: Furuya
authors.forename: J
authors.initials: J
authors.lastname: Kira
mesh_terms: D000328:Adult; D017668:Age of Onset; D000843:Ankle Joint / Q000473:pathology*; D001706:Biopsy; D003286:Contracture / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D005192:Family Health; D005684:Gait; D005799:Genes, Dominant; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D009336:Necrosis; D010375:Pedigree; D010641:Phenotype; D012737:Sex Factors