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LGMD is characterized by progressive muscle weakness involving the shoulder and pelvic girdles. An important differential diagnosis among patients presenting with proximal muscle weakness (PMW) is late-onset Pompe disease (LOPD), a rare neuromuscular glycogen storage disorder, which often presents with early respiratory insufficiency in addition to PMW. Patients with PMW, with or without respiratory symptoms, were included in this study of Latin American patients to evaluate the profile of variants for the included genes related to LGMD recessive (R) and LOPD and the frequency of variants in each gene among this patient population.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Results<\/jats:title>\n<jats:p>Over 20 institutions across Latin America (Brazil, Argentina, Peru, Ecuador, Mexico, and Chile) enrolled 2103 individuals during 2016 and 2017. Nine autosomal recessive LGMDs and Pompe disease were investigated in a 10-gene panel (<jats:italic>ANO5<\/jats:italic>, <jats:italic>CAPN3<\/jats:italic>, <jats:italic>DYSF<\/jats:italic>, <jats:italic>FKRP<\/jats:italic>, <jats:italic>GAA<\/jats:italic>, <jats:italic>SGCA<\/jats:italic>, <jats:italic>SGCB<\/jats:italic>, <jats:italic>SGCD<\/jats:italic>, <jats:italic>SGCG<\/jats:italic>, <jats:italic>TCAP<\/jats:italic>) based on reported disease frequency in Latin America. Sequencing was performed with Illumina\u2019s NextSeq500 and variants were classified according to ACMG guidelines; pathogenic and likely pathogenic were treated as one category (P) and variants of unknown significance (VUS) are described. Genetic variants were identified in 55.8% of patients, with 16% receiving a definitive molecular diagnosis; 39.8% had VUS. Nine patients were identified with Pompe disease.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Conclusions<\/jats:title>\n<jats:p>The results demonstrate the effectiveness of this targeted genetic panel and the importance of including Pompe disease in the differential diagnosis for patients presenting with PMW.<\/jats:p>\n<\/jats:sec>","DOI":"10.1186\/s13023-019-1291-2","type":"journal-article","created":{"date-parts":[[2020,1,13]],"date-time":"2020-01-13T20:02:34Z","timestamp":1578945754000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease"],"prefix":"10.1186","volume":"15","author":[{"given":"Jorge A.","family":"Bevilacqua","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria del Rosario","family":"Guecaimburu Ehuletche","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abayuba","family":"Perna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Dubrovsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr","given":"Marcondes C.","family":"Franca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven","family":"Vargas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madhuri","family":"Hegde","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristl G.","family":"Claeys","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Volker","family":"Straub","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Daba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Faria","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magali","family":"Periquet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Sparks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathan","family":"Thibault","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2625-5365","authenticated-orcid":false,"given":"Roberto","family":"Araujo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,1,13]]},"reference":[{"issue":"7\u20138","key":"1291_CR1","first-page":"532","volume":"13","author":"M Zatz","year":"2013","unstructured":"Zatz M, de Paula F, Starling A, Vainzof M. 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All patients provided informed consent. The research was approved by both IPPMG at Universidade Federal do Rio de Janeiro with number 3.121.406 and the Scientific and Ethics Committee of Hospital Cl\u00ednico Universidad de Chile.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"JAB has received lecture fees from Sanofi-Genzyme; MRGE has nothing to disclose; AP has received funding from Sanofi Genzyme; AD has taken part in advisory boards and given lectures for Sanofi Genzyme; MF has taken part in advisory boards and given lectures for Sanofi Genzyme; SV has received grant\/research support, has served as a consultant, and served on the speakers bureau for Sanofi Genzyme; MH has nothing to disclose; KGC received travel and research grant from Sanofi Genzyme, unrelated to this study; VS has received speaker honoraria from Sanofi Genzyme and funding for a collaborative sequencing project unrelated to this study; ND, RF, MP, SS, NT, and RA are employees of Sanofi Genzyme and Sanofi shareholders.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"11"}}