A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation

In this report, we describe two Brazilian siblings, aged 13 and 6 years, with a novel homozygous mutation (c.8872 C>T:p.Arg2958Ter) in the SPEG gene leading to a congenital myopathy. In the older sibling, the muscle biopsy showed fiber size disproportion.

Source: Neuromuscular Disorders - September 21, 2021 Category: Neurology Authors: Juliana Gurgel-Giannetti, Lucas Santos Souza, Guilherme Ferraz Messina de P ádua Andrade, Maria de Fátima Derlene, Zilda Maria Alves Meira, Beatriz Vilela Morais Azevedo, Wilson Campos Jr, Sabrina Stephanie Lana Diniz, Marina Belisario Carvalhais, Julia Tags: Case report Source Type: research