{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T01:13:08Z","timestamp":1777857188838,"version":"3.51.4"},"reference-count":17,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2024,3,10]],"date-time":"2024-03-10T00:00:00Z","timestamp":1710028800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2024,3,10]],"date-time":"2024-03-10T00:00:00Z","timestamp":1710028800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2024,4,30]]},"abstract":"<jats:p>\n                    Congenital myopathies (CMs) are rare genetic disorders for which the diagnostic yield does not typically exceed 60% . We performed deep phenotyping, histopathological studies, clinical exome and trio genome sequencing and a phenotype-driven analysis of the genomic data, that led to the molecular diagnosis in a child with CM. We identified a heterozygous variant in\n                    <jats:italic toggle=\"yes\">RYR1<\/jats:italic>\n                    in the affected child, inherited from her asymptomatic mother. Given the alignment of the clinical and histopathological phenotype with\n                    <jats:italic toggle=\"yes\">RYR1<\/jats:italic>\n                    -CM, we considered the potential existence of a missing second variant\n                    <jats:italic toggle=\"yes\">in trans<\/jats:italic>\n                    in the proband, but also hypothesized that the variant might be mosaic in the mother, as subsequently demonstrated. Our study is an example of how heterozygous variants inherited from asymptomatic parents are frequently dismissed. When the genotype-phenotype correlation is strong, it is recommended to consider a parental mosaicism.\n                  <\/jats:p>","DOI":"10.3233\/jnd-230216","type":"journal-article","created":{"date-parts":[[2024,3,12]],"date-time":"2024-03-12T13:02:15Z","timestamp":1710248535000},"page":"647-653","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with\n                    <i>RYR1<\/i>\n                    -Congenital Myopathy"],"prefix":"10.1177","volume":"11","author":[{"given":"Berta","family":"Est\u00e9vez-Arias","sequence":"first","affiliation":[{"name":"Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de D\u00e9u, Barcelona, Spain"},{"name":"Laboratory of Neurogenetics and Molecular Medicine - IPER, Institut de Recerca Sant Joan de D\u00e9u, Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leslie","family":"Matalonga","sequence":"additional","affiliation":[{"name":"Centro Nacional An\u00e1lisis Gen\u00f3mico (CNAG), Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Loreto","family":"Martorell","sequence":"additional","affiliation":[{"name":"Center for Biomedical Research Network on Rare Diseases (CIBERER)","place":["Spain"]},{"name":"Institut de Recerca Sant Joan de D\u00e9u","place":["Spain"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Codina","sequence":"additional","affiliation":[{"name":"Institut de Recerca Sant Joan de D\u00e9u, Barcelona","place":["Spain"]},{"name":"Department of Pathology, Hospital Sant Joan de D\u00e9u, Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos","family":"Ortez","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de D\u00e9u, Barcelona, Spain"},{"name":"Center for Biomedical Research Network on Rare Diseases (CIBERER)","place":["Spain"]},{"name":"Institut de Recerca Sant Joan de D\u00e9u, Barcelona","place":["Spain"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Carrera-Garc\u00eda","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de D\u00e9u, Barcelona, Spain"},{"name":"Institut de Recerca Sant Joan de D\u00e9u, Barcelona","place":["Spain"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessica","family":"Exp\u00f3sito-Escudero","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de D\u00e9u, Barcelona, Spain"},{"name":"Institut de Recerca Sant Joan de D\u00e9u, Barcelona","place":["Spain"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Delia","family":"Yubero","sequence":"additional","affiliation":[{"name":"Center for Biomedical Research Network on Rare Diseases (CIBERER)","place":["Spain"]},{"name":"Institut de Recerca Sant Joan de D\u00e9u","place":["Spain"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janet","family":"Hoenicka","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics and Molecular Medicine - IPER, Institut de Recerca Sant Joan de D\u00e9u, Barcelona, Spain"},{"name":"Center for Biomedical Research Network on Rare Diseases (CIBERER)","place":["Spain"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Jou","sequence":"additional","affiliation":[{"name":"Center for Biomedical Research Network on Rare Diseases (CIBERER)","place":["Spain"]},{"name":"Institut de Recerca Sant Joan de D\u00e9u, Barcelona","place":["Spain"]},{"name":"Department of Pathology, Hospital Sant Joan de D\u00e9u, Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesc","family":"Palau","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics and Molecular Medicine - IPER, Institut de Recerca Sant Joan de D\u00e9u, Barcelona, Spain"},{"name":"Center for Biomedical Research Network on Rare Diseases (CIBERER)","place":["Spain"]},{"name":"Institut de Recerca Sant Joan de D\u00e9u","place":["Spain"]},{"name":"ERN ITHACA, Barcelona, Spain"},{"name":"Universitat de Barcelona (UB)","place":["Spain"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergi","family":"Beltran","sequence":"additional","affiliation":[{"name":"Centro Nacional An\u00e1lisis Gen\u00f3mico (CNAG), Barcelona, Spain"},{"name":"Universitat de Barcelona (UB), Barcelona","place":["Spain"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanns","family":"Lochm\u00fcller","sequence":"additional","affiliation":[{"name":"Centro Nacional An\u00e1lisis Gen\u00f3mico (CNAG), Barcelona, Spain"},{"name":"Childrens Hospital of Eastern Ontario Research Institute","place":["Canada"]},{"name":"Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"T\u00f6pf","sequence":"additional","affiliation":[{"name":"Newcastle University and Newcastle Hospitals NHS Foundation Trust","place":["UK"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e9s","family":"Nascimento","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de D\u00e9u, Barcelona, Spain"},{"name":"Center for Biomedical Research Network on Rare Diseases (CIBERER)","place":["Spain"]},{"name":"Institut de Recerca Sant Joan de D\u00e9u, Barcelona","place":["Spain"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7764-2085","authenticated-orcid":false,"given":"Daniel","family":"Natera-de Benito","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de D\u00e9u, Barcelona, Spain"},{"name":"Institut de Recerca Sant Joan de D\u00e9u, Barcelona","place":["Spain"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2024,3,10]]},"reference":[{"key":"e_1_3_7_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/J.COPH.2022.102328"},{"key":"e_1_3_7_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-64076-5.00036-3"},{"key":"e_1_3_7_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/J.PEDIATRNEUROL.2020.11.002"},{"key":"e_1_3_7_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/J.NMD.2018.02.011"},{"key":"e_1_3_7_6_2","doi-asserted-by":"publisher","DOI":"10.1186\/S13395-020-00243-4"},{"key":"e_1_3_7_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ANA.22510"},{"key":"e_1_3_7_8_2","first-page":"1082","article-title":"The human ryanodine receptor gene: Its mapping to 19q13. 1, placement in a chromosome 19 linkage group, and exclusion as the gene causing myotonic dystrophy","volume":"46","author":"MacKenzie AE","year":"1990","unstructured":"MacKenzieAE, KornelukRG, ZorzatoF, FujiiJ, PhillipsM, IlesD, et al. 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