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A Rare Case of Severe Congenital RYR1-Associated Myopathy
Joint Authors
Di Mauro, Antonio
Laforgia, Nicola
Capozza, Manuela
De Cosmo, Lucrezia
Baldassarre, Maria Elisabetta
Mercadante, Francesca
Torella, Anna Laura
Nigro, Vincenzo
Resta, Nicoletta
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-08-01
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
Congenital myopathies are a group of rare inherited diseases, defined by hypotonia and muscle weakness.
We report clinical and genetic characteristics of a male preterm newborn, whose phenotype was characterized by severe hypotonia and hyporeactivity, serious respiratory distress syndrome that required mechanical ventilation, clubfoot, and other dysmorphic features.
The diagnostic procedure was completed with the complete exome sequencing of the proband and of his parents and his sister, which showed new mutations in the ryanodine receptor gene (RYR1), which maps to chromosome 19q13.2 and encodes the skeletal muscle isoform of a calcium-release channel in the sarcoplasmic reticulum (RyR1).
This report confirms that early diagnosis and accurate study of genomic disorders are very important, enabling proper genetic counselling of the reproductive risk, as well as disease prognosis and patient management.
American Psychological Association (APA)
Laforgia, Nicola& Capozza, Manuela& De Cosmo, Lucrezia& Di Mauro, Antonio& Baldassarre, Maria Elisabetta& Mercadante, Francesca…[et al.]. 2018. A Rare Case of Severe Congenital RYR1-Associated Myopathy. Case Reports in Genetics،Vol. 2018, no. 2018, pp.1-7.
https://search.emarefa.net/detail/BIM-1143316
Modern Language Association (MLA)
Laforgia, Nicola…[et al.]. A Rare Case of Severe Congenital RYR1-Associated Myopathy. Case Reports in Genetics No. 2018 (2018), pp.1-7.
https://search.emarefa.net/detail/BIM-1143316
American Medical Association (AMA)
Laforgia, Nicola& Capozza, Manuela& De Cosmo, Lucrezia& Di Mauro, Antonio& Baldassarre, Maria Elisabetta& Mercadante, Francesca…[et al.]. A Rare Case of Severe Congenital RYR1-Associated Myopathy. Case Reports in Genetics. 2018. Vol. 2018, no. 2018, pp.1-7.
https://search.emarefa.net/detail/BIM-1143316
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1143316