Fig. 1

Family history and pedigree. Proband has no siblings, his father has no signs of muscular dystrophy nor cardiovascular disease and is 70 years old. Mother of patient is alive, with no cardiac involvement, genetic analysis was not performed. Mother’s sister, aunt of the proband, was diagnosed as a carrier of an identified mutation, has limited contact with the family, but no cardiac involvement could be traced. Her sons, proband’s first cousins, were both confirmed to carry the mutation. The older one (born 1971) died from heart failure in his early thirties, suffering frequent epileptic seizures, aggravating an already unfavorable status, with dystrophy signs since the age of 10. More detailed data could not be retrieved since he was more than 10 years deceased during manuscript preparation. The younger cousin, born 1982 is alive, in his late thirties, with severe myopathy, loss of ambulation since age 14 and was diagnosed with dilated cardiomyopathy. Mother’s brother died at 40 years, further details could not be retrieved from the family. The proband has two healthy daughters. Otherwise, the traceable family cardiac history was irrelevant