Combined Clinical, Molecular, and Muscle Biopsy Approach to Unveil Prevalence and Clinical Features of Rare Neuromuscular and Mitochondrial Diseases in Patients With Cardiomyopathies

Among patients with (NMDs), major cause of morbidity and mortality. Although cardiomyopathies (CMPs) represent a neuromuscular disorders there is large consensus on the adoption of a multidisciplinary approach in patients with CMPs, there is limited evidence on the role of a combined evaluation, based on the muscle biopsy and genetic testing, in patients with suspicion of NMDs.1,2 In our study, we aimed to evaluate the prevalence of rare NMDs and the usefulness of genetic testing and muscle biopsy, in addition to a comprehensive cardiological and neuromuscular evaluation, to identify CMP patients with neuromuscular or mitochondrial etiology in a consecutive cohort of patients referred to a tertiary CMP clinic. © 2019 Medical Journal of Babylon | Published by Wolters Kluwer - Medknow.