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

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

Neuromuscular Disorders（2021）

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摘要

•SPEG mutations have been described primarily associated with centronuclear myopathy.•Expanding muscular histopathological findings related to SPEG mutations, include FSD and hypertrophy of type 2 fibers.•Clinically, most of the patients with SPEG mutations show the association of myopathy and cardiomyopathy.•Heart transplantation can be considered in SPEG patients with mild myopathy and preserved respiratory function.

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关键词

Congenital myopathy,Muscle biopsy,Speg,Congenital fiber type disproportion,Fiber size disproportion,Dilated cardiomyopathy

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