title: Two siblings with nemaline myopathy presenting with rigid spine syndrome.
abstract: Two siblings, ages 20 and 19 presented with more than 10 yr history of spinal rigidity and scoliosis. The parents were first cousins. Muscle biopsies were consistent with nemaline myopathy. This has been the first association between a familial rigid spine syndrome and nemaline myopathy.
authors.affiliation: Department of Paediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.
authors.forename: H
authors.initials: H
authors.lastname: Topaloglu
authors.forename: S
authors.initials: S
authors.lastname: Gögüs
authors.forename: K
authors.initials: K
authors.lastname: Yalaz
authors.forename: T
authors.initials: T
authors.lastname: Kücükali
authors.forename: A
authors.initials: A
authors.lastname: Serdaroglu
mesh_terms: D000328:Adult; D003402:Creatine Kinase / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D009132:Muscles / Q000473:pathology; D009210:Myofibrils / Q000473:pathology; D017696:Myopathies, Nemaline / Q000473:pathology*; D012600:Scoliosis / Q000473:pathology; D013122:Spinal Diseases / Q000473:pathology*
chemical_list: D003402:Creatine Kinase