title: Late-onset dysferlinopathy presented as "liver enzyme" abnormalities: a technical note.
abstract: Limb-girdle muscular dystrophy type 2B,a type of dysferlinopathy, is caused by mutations in the dysferlin gene (DYSE). It is characterized by predominant weakness and atrophy of muscles of the pelvic and shoulder girdles, massive elevation of serum CK concentration, slow progression, and onset usually within the second or third decade of life. We present a Chinese patient whose disease onset was at the age of 50 years with persistent elevation of transaminases for 3 years before weakness appeared. She had been considered as having liver disease for a long time and then polymyositis. Finally, biceps brachii biopsy revealed dystrophic morphology and depletion of dysferlin in immunohistochemistry. This case should remind readers that late-age onset of dysferlinopathy can be misdiagnosed as liver disease or polymyositis.
authors.affiliation: From the *Department of Endocrinology and Rheumatology, The Second Affiliated Clinical College in Chengdu of Chongqing Medical University, and The Third People's Hospital of Chengdu; and †Department of Rheumatology, West China Hospital, Sichuan University, Chengdu; and ‡Department of Rheumatology and Clinical Immunology, The First Hospital of Xiamen University, Xiamen, China.
authors.forename: Fang
authors.initials: F
authors.lastname: Li
authors.forename: Geng
authors.initials: G
authors.lastname: Yin
authors.forename: Qibing
authors.initials: Q
authors.lastname: Xie
authors.forename: Guixiu
authors.initials: G
authors.lastname: Shi
mesh_terms: D000410:Alanine Transaminase / Q000097:blood; D001707:Biopsy, Needle; D057210:Delayed Diagnosis; D003937:Diagnosis, Differential; D018450:Disease Progression; D000073939:Dysferlin; D004576:Electromyography / Q000379:methods; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008107:Liver Diseases / Q000097:blood / Q000175:diagnosis*; D008111:Liver Function Tests; D008565:Membrane Proteins / Q000097:blood* / Q000235:genetics; D008875:Middle Aged; D009124:Muscle Proteins / Q000032:analysis / Q000097:blood* / Q000235:genetics; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis* / Q000473:pathology / Q000534:rehabilitation; D017285:Polymyositis / Q000175:diagnosis*; D018570:Risk Assessment
chemical_list: C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins; D000410:Alanine Transaminase