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Article

Congenital myopathy associated with a novel mutation in MEGF10 gene, myofibrillar alteration and progressive course.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 Jan 2022

Croci Carolina, Traverso Monica, Baratto Serena, Iacomino Michele, Pedemonte Marina, Caroli Francesco, Scala Marcello, Bruno Claudio, Fiorillo Chiara

Abstract excerpt

Early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) is caused by homozygous or compound heterozygous mutation in the MEGF10 gene (OMIM #614399). Phenotypic spectrum of EMARDD is variable, ranging from severe infantile forms in which patients are ventilator-dependent and die in childhood, to milder chronic disorders with a more favorable course (mild variant, mvEMARDD). Here we describe a...

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PMID: 36349186
DOI: 10.36185/2532-1900-076
PMCID: PMC9628799

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