Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8457219 | Neurologia i Neurochirurgia Polska | 2018 | 7 Pages |
Abstract
Mild skeletal muscle symptoms might be accompanied with severe cardiac disease, sometimes indicating a serious inherited disorder. Very often it is a cardiologist who refers a patient with cardiomyopathy and/or cardiac arrhythmia and discrete muscle disease for neurological consultation, which helps to establish a proper diagnosis. Here we present three families in which a diagnosis of skeletal muscle laminopathy was made after careful examination of the members, who presented with cardiac arrhythmia and/or heart failure and a mild skeletal muscle disease, which together with positive family history allowed to direct the molecular diagnostics and then provide appropriate treatment and counseling.
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Authors
Agnieszka Madej-Pilarczyk, MichaÅ Marchel, Karolina Ochman, Joanna Cegielska, Roman Steckiewicz,