Congenital myopathy with recessive SPEG gene mutations has been relatively recently discovered (2014) and remains extremely rare. It generally combines centronuclear-type myopathy and cardiomyopathy. Brazilian researchers report the observation of a family with two affected children:
- the clinical picture was that of early onset myopathy;
- the muscle biopsy showed a marked disproportion in the size of the muscle fibers without nuclear centralization;
- in the older of the two sisters, a rapidly progressive cardiomyopathy required a heart transplant at the age of 13 years.