{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:20:00Z","timestamp":1760833200490,"version":"build-2065373602"},"reference-count":16,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2009,3,1]],"date-time":"2009-03-01T00:00:00Z","timestamp":1235865600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2009,3,1]],"date-time":"2009-03-01T00:00:00Z","timestamp":1235865600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2009,3]]},"DOI":"10.1016\/j.nmd.2009.01.001","type":"journal-article","created":{"date-parts":[[2009,2,16]],"date-time":"2009-02-16T04:16:17Z","timestamp":1234757777000},"page":"220-222","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"title":["Does the K153R variant of the myostatin gene influence the clinical presentation of women with McArdle disease?"],"prefix":"10.1016","volume":"19","author":[{"given":"Marta","family":"Gonz\u00e1lez-Freire","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catalina","family":"Santiago","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F\u00e9lix","family":"G\u00f3mez-Gallego","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margarita","family":"P\u00e9rez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carl","family":"Foster","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joaqu\u00edn","family":"Arenas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alejandro","family":"Lucia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2009.01.001_bib1","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1038\/ncpneuro0913","article-title":"McArdle disease: what do neurologists need to know?","volume":"4","author":"Lucia","year":"2008","journal-title":"Nat Clin Pract Neurol"},{"key":"10.1016\/j.nmd.2009.01.001_bib2","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1002\/ana.10499","article-title":"Phenotype modulators in myophosphorylase deficiency","volume":"53","author":"Martinuzzi","year":"2003","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2009.01.001_bib3","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1136\/bjsm.2007.038992","article-title":"The I allele of the ACE gene is associated with improved exercise capacity in women with McArdle disease","volume":"42","author":"G\u00f3mez-Gallego","year":"2008","journal-title":"Br J Sports Med"},{"key":"10.1016\/j.nmd.2009.01.001_bib4","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/j.neulet.2007.06.025","article-title":"Genotype modulators of clinical severity in McArdle disease","volume":"422","author":"Rubio","year":"2007","journal-title":"Neurosci Lett"},{"key":"10.1016\/j.nmd.2009.01.001_bib5","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/0960-8966(94)00062-E","article-title":"Double trouble: combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci","volume":"15","author":"Tsujino","year":"1995","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2009.01.001_bib6","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1016\/j.nmd.2007.04.006","article-title":"The 577X allele of the ACTN3 gene is associated with improved exercise capacity in women with McArdle\u2019s disease","volume":"17","author":"Lucia","year":"2007","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2009.01.001_bib7","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1097\/00003677-200110000-00004","article-title":"Myostatin in muscle growth and repair","volume":"29","author":"Sharma","year":"2001","journal-title":"Exerc Sport Sci Rev"},{"key":"10.1016\/j.nmd.2009.01.001_bib8","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1006\/geno.1999.5984","article-title":"Frequent sequence variation in the human myostatin (GDF8) gene as a marker for analysis of muscle-related phenotypes","volume":"62","author":"Ferrell","year":"1999","journal-title":"Genomics"},{"key":"10.1016\/j.nmd.2009.01.001_bib9","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1152\/physiolgenomics.00224.2003","article-title":"Linkage of myostatin pathway genes with knee strength in humans","volume":"17","author":"Huygens","year":"2004","journal-title":"Physiol Genomics"},{"key":"10.1016\/j.nmd.2009.01.001_bib10","doi-asserted-by":"crossref","first-page":"M641","DOI":"10.1093\/gerona\/55.11.M641","article-title":"Effects of age, gender, and myostatin genotype on the hypertrophic response to heavy resistance strength training","volume":"55","author":"Ivey","year":"2000","journal-title":"J Gerontol A Biol Sci Med Sci"},{"key":"10.1016\/j.nmd.2009.01.001_bib11","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1046\/j.1532-5415.2001.49214.x","article-title":"Polymorphic variation in the human myostatin (GDF-8) gene and association with strength measures in the Women\u2019s Health and Aging Study II cohort","volume":"49","author":"Seibert","year":"2001","journal-title":"J Am Geriatr Soc"},{"key":"10.1016\/j.nmd.2009.01.001_bib12","doi-asserted-by":"crossref","unstructured":"Gonzalez-Freire M, Santiago C, Verde Z, et al. Unique among unique. Is it genetically determined? Br J Sports Med 2008 [Epub ahead of print].","DOI":"10.1136\/bjsm.2008.049809"},{"key":"10.1016\/j.nmd.2009.01.001_bib13","doi-asserted-by":"crossref","first-page":"9306","DOI":"10.1073\/pnas.151270098","article-title":"Regulation of myostatin activity and muscle growth","volume":"98","author":"Lee","year":"2001","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.nmd.2009.01.001_bib14","doi-asserted-by":"crossref","first-page":"1089","DOI":"10.1086\/509707","article-title":"Human adaptative evolution at myostatin (GDF8), a regulator of muscle growth","volume":"79","author":"Saunders","year":"2006","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2009.01.001_bib15","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1002\/ana.21338","article-title":"A phase I\/II trial of MYO-029 in adult subjects with muscular dystrophy","volume":"63","author":"Wagner","year":"2008","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2009.01.001_bib16","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1002\/humu.20649","article-title":"Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay","volume":"29","author":"Nogales-Gadea","year":"2008","journal-title":"Hum Mutat"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896609000029?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896609000029?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:56:57Z","timestamp":1760774217000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896609000029"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,3]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2009,3]]}},"alternative-id":["S0960896609000029"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2009.01.001","relation":{},"ISSN":["0960-8966"],"issn-type":[{"type":"print","value":"0960-8966"}],"subject":[],"published":{"date-parts":[[2009,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Does the K153R variant of the myostatin gene influence the clinical presentation of women with McArdle disease?","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2009.01.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2009 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}