{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T04:47:45Z","timestamp":1778561265432,"version":"3.51.4"},"reference-count":53,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2019,10,10]],"date-time":"2019-10-10T00:00:00Z","timestamp":1570665600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Instituto de Salud Carlos III-FEDER Funding Program from the European Union","award":["ISCIII PI14\/00431"],"award-info":[{"award-number":["ISCIII PI14\/00431"]}]},{"name":"Comunidad de Madrid-FEDER Funding Program from the European Union","award":["B2017\/BMD-3721"],"award-info":[{"award-number":["B2017\/BMD-3721"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Phosphoglycerate kinase (PGK)1 deficiency is an X-linked inherited disease associated with different clinical presentations, sometimes as myopathic affectation without hemolytic anemia. We present a 40-year-old male with a mild psychomotor delay and mild mental retardation, who developed progressive exercise intolerance, cramps and sporadic episodes of rhabdomyolysis but no hematological features. A genetic study was carried out by a next-generation sequencing (NGS) panel of 32 genes associated with inherited metabolic myopathies. We identified a missense variant in the PGK1 gene c.1114G &gt; A (p.Gly372Ser) located in the last nucleotide of exon 9. cDNA studies demonstrated abnormalities in mRNA splicing because this change abolishes the exon 9 donor site. This novel variant is the first variant associated with a myopathic form of PGK1 deficiency in the Spanish population.<\/jats:p>","DOI":"10.3390\/genes10100785","type":"journal-article","created":{"date-parts":[[2019,10,11]],"date-time":"2019-10-11T03:07:11Z","timestamp":1570763231000},"page":"785","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["A Novel Missense Variant Associated with A Splicing Defect in A Myopathic Form of PGK1 Deficiency in The Spanish Population"],"prefix":"10.3390","volume":"10","author":[{"given":"Virginia","family":"Garcia-Solaesa","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Complejo Hospitalario de Navarra, IdiSNA, Navarra Institute for Health Research, 31008 Pamplona, Spain, <email>ma.ramos.arroyo@navarra.es<\/email> (M.A.R.-A.)"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5661-7574","authenticated-orcid":false,"given":"Pablo","family":"Serrano-Lorenzo","sequence":"additional","affiliation":[{"name":"Laboratorio de Enfermedades Mitocondriales y Neurometab\u00f3licas. Instituto de Investigaci\u00f3n Hospital 12 de Octubre, 28041 Madrid, Spain, <email>pserranolorenzo.imas12@h12o.es<\/email> (P.S.-L.)"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Antonia","family":"Ramos-Arroyo","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Complejo Hospitalario de Navarra, IdiSNA, Navarra Institute for Health Research, 31008 Pamplona, Spain, <email>ma.ramos.arroyo@navarra.es<\/email> (M.A.R.-A.)"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Bl\u00e1zquez","sequence":"additional","affiliation":[{"name":"Laboratorio de Enfermedades Mitocondriales y Neurometab\u00f3licas. Instituto de Investigaci\u00f3n Hospital 12 de Octubre, 28041 Madrid, Spain, <email>pserranolorenzo.imas12@h12o.es<\/email> (P.S.-L.)"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), 28041 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inmaculada","family":"Pagola-Lorz","sequence":"additional","affiliation":[{"name":"Department of Neurology, Complejo Hospitalario de Navarra, IdiSNA (Navarra Institute for Health Research), 31008 Pamplona, Spain, <email>inmaculada.pagola.lorz@navarra.es<\/email> (I.P.-L.)"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Merc\u00e8","family":"Artigas-L\u00f3pez","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Complejo Hospitalario de Navarra, IdiSNA, Navarra Institute for Health Research, 31008 Pamplona, Spain, <email>ma.ramos.arroyo@navarra.es<\/email> (M.A.R.-A.)"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joaqu\u00edn","family":"Arenas","sequence":"additional","affiliation":[{"name":"Laboratorio de Enfermedades Mitocondriales y Neurometab\u00f3licas. Instituto de Investigaci\u00f3n Hospital 12 de Octubre, 28041 Madrid, Spain, <email>pserranolorenzo.imas12@h12o.es<\/email> (P.S.-L.)"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), 28041 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4741-772X","authenticated-orcid":false,"given":"Miguel A.","family":"Mart\u00edn","sequence":"additional","affiliation":[{"name":"Laboratorio de Enfermedades Mitocondriales y Neurometab\u00f3licas. Instituto de Investigaci\u00f3n Hospital 12 de Octubre, 28041 Madrid, Spain, <email>pserranolorenzo.imas12@h12o.es<\/email> (P.S.-L.)"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), 28041 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivonne","family":"Jeric\u00f3-Pascual","sequence":"additional","affiliation":[{"name":"Department of Neurology, Complejo Hospitalario de Navarra, IdiSNA (Navarra Institute for Health Research), 31008 Pamplona, Spain, <email>inmaculada.pagola.lorz@navarra.es<\/email> (I.P.-L.)"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2019,10,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1111\/j.1365-2141.2006.06351.x","article-title":"PGK deficiency","volume":"136","author":"Beutler","year":"2007","journal-title":"Br. J. 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