title: Intrafamilial phenotypic variation in limb-girdle muscular dystrophy type 2C with compound heterozygous mutations.
abstract: Two Japanese-Brazilian siblings with type 2C limb girdle muscular dystrophy showed a maternal 521-T deletion in exon 6 and a larger paternal deletion of exon 6 in the gamma-sarcoglycan gene. One sib was ambulant at 29 years of age, whereas the other sib was confined to a wheelchair at the age of 12. Sarcoglycan staining of the muscle was reduced in both siblings but it did not correlate with the observed variability of the clinical severity.
authors.affiliation: Department of Neurology, Nagoya University School of Medicine, 65 Tsurumai-cho Showa-ku Nagoya, 466-8550 Japan. atakano@med.nagoya-u.ac.jp
authors.forename: A
authors.initials: A
authors.lastname: Takano
authors.forename: C G
authors.initials: CG
authors.lastname: Bönnemann
authors.forename: H
authors.initials: H
authors.lastname: Honda
authors.forename: M
authors.initials: M
authors.lastname: Sakai
authors.forename: C A
authors.initials: CA
authors.lastname: Feener
authors.forename: L M
authors.initials: LM
authors.lastname: Kunkel
authors.forename: G
authors.initials: G
authors.lastname: Sobue
mesh_terms: D000328:Adult; D044466:Asian People; D001938:Brazil; D002648:Child; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005091:Exons; D005260:Female; D006580:Genetic Carrier Screening; D014644:Genetic Variation; D018392:Genomic Imprinting; D006801:Humans; D007564:Japan / Q000208:ethnology; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D009679:Nuclear Family; D010641:Phenotype; D049031:Sarcoglycans; D017384:Sequence Deletion; D044465:White People
chemical_list: D003598:Cytoskeletal Proteins; D008562:Membrane Glycoproteins; D049031:Sarcoglycans