Rosa C Manzi

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The following is a report on a large family with 5 males affected by the X-linked recessive form of Emery-Dreifuss muscular dystrophy with mutation in the STA gene. A detailed longitudinal cardiological evaluation and muscle imaging studies allowed for the assessment of intrafamilial variability of cardiac and muscle involvement. Long term cardiological(More)
INTRODUCTION LMNA gene mutations are associated with cardiac and skeletal muscle alterations. METHODS A cohort of 21 mutated individuals was assessed with clinical and instrumental investigations over the years. RESULTS The median observation period was 6 years. Cardiac compromise was detected in 16 patients. Bradyarrhythmias were the most frequent(More)
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