Congenital myopathy due to SPEG deficiency is very commonly associated with severe cardiomyopathy

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.


A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation. Gurgel-Giannetti J, Souza LS, Messina de Pádua Andrade GF et al. Neuromuscul Disord. 2021 Nov;31(11):1199-1206.