Is cardiac dysfunction a feature of dysferlinopathy? Data from the clinical outcome study of dysferlinopathy


Dysferlinopathies are muscular dystrophies due to recessive mutations in the DYSF gene, and are not traditionally considered to cause cardiac dysfunction. However, occasional reports of patients having left ventricular dysfunction raise the possibility of dysferlinopathy associated cardiomyopathy. We sought to evaluate the frequency of cardiac test abnormalities in patients participating in the international multicentre clinical outcome study of dysferlinopathy. All 193 patients had genetically confirmed dysferlinopathy.


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