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KMID : 1035220180100020045
Korean Journal of Neuromuscular Disorders
2018 Volume.10 No. 2 p.45 ~ p.49
Detection of Atrial Flutter and Anti-Centromere Antibody in a Patient with Dysferlinopathy
Sohn Sung-Yeon

Choi Seok-Jin
Shin Je-Young
Park Sung-Hye
Sung Jung-Joon
Abstract
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.
KEYWORD
Dysferlinopathy, Atrial flutter, Autoimmune diseases
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