Progressive myopathy with circulating autoantibody against giantin in the Golgi apparatus.
A woman aged 59 years with adult-onset progressive myopathy had anti-Golgi (giantin) autoantibody in the serum. Limb-muscle biopsy revealed chronic myopathy with paucity of cellular reactions and reduced immunostaining for alpha-dystroglycan. The similarity of the current patient with cases of hereditary alpha-dystroglycanopathies (Fukuyama-type congenital muscular dystrophy, Walker-Warburg syndrome, muscle-eye-brain disease, congenital muscular dystrophy type 1C, and limb-girdle muscular dystrophy type 2I) suggests that the Golgi apparatus is the target organelle in a subset of myopathies.
Sahashi
K
K
Department of Neurology, Aichi Medical University, Japan. sahashi@amugw.aichi-med-u.ac.jp
Ibi
T
T
Ohno
K
K
Sahashi
K
K
Nakao
N
N
Kondo
H
H
D000918:Antibody Specificity; D001323:Autoantibodies / Q000097:blood / Q000276:immunology*; D001324:Autoantigens / Q000276:immunology*; D001327:Autoimmune Diseases / Q000097:blood / Q000276:immunology* / Q000473:pathology; D018450:Disease Progression; D005260:Female; D006056:Golgi Apparatus / Q000737:chemistry; D006801:Humans; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000276:immunology / Q000473:pathology; D020966:Muscular Disorders, Atrophic / Q000097:blood / Q000276:immunology* / Q000473:pathology; D012260:Ribonucleases / Q000276:immunology*
D001323:Autoantibodies; D001324:Autoantigens; D012260:Ribonucleases; C090042:gigantin