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01-04-2020 | Original Article

Single-centre experience on genotypic and phenotypic features of southern Brazilian patients with McArdle disease

Authors: Paulo José Lorenzoni, Lineu Cesar Werneck, Cláudia Suemi Kamoi Kay, Raquel Cristina Arndt, Carlos E. S. Silvado, Rosana Herminia Scola

Published in: Acta Neurologica Belgica | Issue 2/2020

Abstract

McArdle disease (MD) is a metabolic myopathy caused by deficiency of the myophosphorylase enzyme. The aim of our study was to analyse a series of MD patients in Brazil and the correlation between clinical findings, laboratory data, electromyography, muscle biopsy and genetic features. The PYGM gene was analysed by PCR/RLFP and Sanger sequencing. The sample included 12 patients, aged 18–57 years, from unrelated families. Exercise intolerance was present in all cases. Serum creatine kinase levels at rest were increased in all patients. Forearm ischaemic exercise testing in five patients revealed no increase in venous lactate. Needle electromyography presented ‘myopathic pattern’ in six patients. Muscle biopsy showed vacuolar myopathy in 10 patients and deficiency of myophosphorylase enzyme in all patients. The genetic analysis showed p.R50X as the most common mutation (allelic frequency: 56.25%), other known mutations (p.Y574X, p.G205S, p.W798R, IVS14 + 1G > A and IVS19-1G > A) and a new mutation (p.Asn168Lysfs*15) were also identified. Several features of the disorder were similar to the vast majority of patients worldwide. The genetic findings of this study revealed a range of mutations that are quite similar to the European cohort. The discovery of one novel mutation increases the genotypic heterogeneity of PYGM gene.

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Title: Single-centre experience on genotypic and phenotypic features of southern Brazilian patients with McArdle disease
Authors: Paulo José Lorenzoni
Lineu Cesar Werneck
Cláudia Suemi Kamoi Kay
Raquel Cristina Arndt
Carlos E. S. Silvado
Rosana Herminia Scola
Publication date: 01-04-2020
Publisher: Springer International Publishing
Published in: Acta Neurologica Belgica / Issue 2/2020
Print ISSN: 0300-9009
Electronic ISSN: 2240-2993
DOI: https://doi.org/10.1007/s13760-018-1038-1

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Single-centre experience on genotypic and phenotypic features of southern Brazilian patients with McArdle disease

Abstract

Keynote webinar | Spotlight on medication adherence

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Abstract

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