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

doi:10.1016/j.nmd.2021.09.005

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Article

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

Neuromuscular disorders : NMD - 1 Nov 2021

Gurgel-Giannetti Juliana, Souza Lucas Santos, Messina de Pádua Andrade Guilherme Ferraz, Derlene Maria de Fátima, Meira Zilda Maria Alves, Azevedo Beatriz Vilela Morais, Jr Wilson Campos, Diniz Sabrina Stephanie Lana, Carvalhais Marina Belisario, Oliveira Juliana Rodrigues Soares, Uliana Livia, Bráulio Renato, Costa Paulo Henrique Nogueira, Filho Geraldo Brasileiro, Vainzof Mariz

Abstract excerpt

Congenital myopathies are a heterogeneous group of conditions diagnosed based on the clinical presentation, muscle histopathology and genetic defects. Recessive mutations in the SPEG gene have been described in recent years and are primarily associated with centronuclear myopathy with cardiomyopathy. In this report, we describe two Brazilian siblings, aged 13 and 6 years, with a novel homozygous mutation (c.8872...

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PMID: 34742623
DOI: 10.1016/j.nmd.2021.09.005

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