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| Korean Journal of Neuromuscular Disorders ; 10 : 45 - 49, December 2018 |
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| Detection of Atrial Flutter and Anti-Centromere Antibody in a Patient with Dysferlinopathy |
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| Sung-Yeon Sohn, MD1, Seok-Jin Choi, MD2, Je-Young Shin, MD3, Sung Hye Park, MD4, Jung-Joon Sung, MD3 |
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| 1Department of Neurology, Eulji University Hospital, Daejeon; 2Department of Neurology, Inha University Hospital, Incheon; Departments of 3Neurology, 4Pathology, Seoul National University Hospital, Seoul, Korea |
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Dysferlinopathy refers to myopathy due to defective dysferlin protein
located in the sarcolemma. The major phenotypes include limb-girdle
muscular dystrophy type 2B and Miyoshi myopathy. However,in recent
years substantial symptomatic variations as well as some minor
atypical phenotypes have increasingly been recognized. In this work,
the authors detected concomitant atrial flutter and anti-centromere
antibody in a biopsy-confirmed late onset dysferlinopathy patient. The
authors also discuss cardiac manifestation of dysferlinopathy and the
relationship between defective dysferlin and autoimmune processes in
dysferlinopathy patients. |
KEYWORDS : Dysferlinopathy, Atrial flutter, Autoimmune diseases |
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