title: Familial mixed congenital myopathy with rigid spine phenotype.
abstract: We describe a father and daughter with a rigid spine syndrome and proximal myopathy. The index patient was a 42-year-old man, who died from respiratory failure after a lifelong, slowly progressive proximal myopathy and a rigid spine phenotype. This was morphologically characterized by cytoplasmic bodies, increased desmin, features of reducing-body myopathy, and sarcoplasmic and intranuclear tubulofilamentous inclusions. These cases are characterized by an early onset and possibly autosomal-dominant inheritance, with associated complex structural hallmarks of both desmin-related and inclusion body myopathies. Together they may be defined as a complex mixed congenital myopathy with a rigid spine phenotype.
authors.affiliation: Neurologische Klinik, Bayerische Julius-Maximilians-Universität, Würzburg, Germany.
authors.forename: H
authors.initials: H
authors.lastname: Reichmann
authors.forename: H H
authors.initials: HH
authors.lastname: Goebel
authors.forename: C
authors.initials: C
authors.lastname: Schneider
authors.forename: K V
authors.initials: KV
authors.lastname: Toyka
mesh_terms: D000328:Adult; D002467:Cell Nucleus / Q000473:pathology / Q000648:ultrastructure; D002648:Child; D003893:Desmin / Q000032:analysis; D016189:Dystrophin / Q000032:analysis; D004576:Electromyography; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008264:Macrophages / Q000473:pathology / Q000648:ultrastructure; D008297:Male; D009046:Motor Neurons / Q000502:physiology; D018482:Muscle, Skeletal / Q000473:pathology* / Q000648:ultrastructure; D009224:Myotonia Congenita / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D009431:Neural Conduction; D015388:Organelles / Q000473:pathology / Q000648:ultrastructure; D012131:Respiratory Insufficiency; D013122:Spinal Diseases / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D013131:Spine / Q000503:physiopathology
chemical_list: D003893:Desmin; D016189:Dystrophin