{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T15:17:15Z","timestamp":1787498235654,"version":"build-2736575974"},"reference-count":32,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,5,6]],"date-time":"2019-05-06T00:00:00Z","timestamp":1557100800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004243","name":"Prinses Beatrix Spierfonds","doi-asserted-by":"publisher","award":["not applicable"],"award-info":[{"award-number":["not applicable"]}],"id":[{"id":"10.13039\/501100004243","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    In this retrospective study, we conducted a clinico\u2010genetic analysis of patients with autosomal recessive limb\u2010girdle muscular dystrophy (LGMD) and Miyoshi muscular dystrophy (MMD). Patients were identified at the tertiary referral centre for DNA diagnosis in the Netherlands and included if they carried two mutations in\n                    <jats:italic>CAPN3<\/jats:italic>\n                    ,\n                    <jats:italic>DYSF<\/jats:italic>\n                    ,\n                    <jats:italic>SGCG<\/jats:italic>\n                    ,\n                    <jats:italic>SGCA<\/jats:italic>\n                    ,\n                    <jats:italic>SGCB<\/jats:italic>\n                    ,\n                    <jats:italic>SGCD, TRIM32, FKRP<\/jats:italic>\n                    or\n                    <jats:italic>ANO5<\/jats:italic>\n                    gene. DNA was screened by direct sequencing and multiplex ligand\u2010dependent probe amplification (MLPA) analysis. A total of 244 patients was identified; 68 LGMDR1\/LGMD2A patients with\n                    <jats:italic>CAPN3<\/jats:italic>\n                    mutations (28%), 67 sarcoglycanopathy patients (LGMDR3\u20105\/LGMD2C\u2010E) (27%), 64 LGMDR12\/LGMD2L and MMD3 patients with\n                    <jats:italic>ANO5<\/jats:italic>\n                    mutations (26%), 25 LGMDR2\/LGMD2B and MMD1 with\n                    <jats:italic>DYSF<\/jats:italic>\n                    mutations (10%), 21 LGMDR9\/LGMD2I with\n                    <jats:italic>FKRP<\/jats:italic>\n                    mutations (9%) and one LGMDR8\/LGMD2H patient with\n                    <jats:italic>TRIM32<\/jats:italic>\n                    mutations (&lt;1%). The estimated minimum prevalence of AR\u2010LGMD and MMD in the Netherlands amounted to 14.4 \u00d7 10\n                    <jats:sup>\u22126<\/jats:sup>\n                    . Thirty\u2010three novel mutations were identified. A wide range in age of onset (0\u201072 years) and loss of ambulation (5\u201074 years) was found. Fifteen patients (6%) initially presented with asymptomatic hyperCKemia. Cardiac abnormalities were found in 35 patients (17%). Non\u2010invasive ventilation was started in 34 patients (14%). Both cardiac and respiratory involvement occurs across all subtypes, stressing the need for screening in all included subtypes.\n                  <\/jats:p>","DOI":"10.1111\/cge.13544","type":"journal-article","created":{"date-parts":[[2019,3,28]],"date-time":"2019-03-28T09:22:53Z","timestamp":1553764973000},"page":"126-133","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":48,"title":["Autosomal recessive limb\u2010girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients"],"prefix":"10.1111","volume":"96","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0505-5847","authenticated-orcid":false,"given":"Leroy","family":"ten Dam","sequence":"first","affiliation":[{"name":"Department of Neurology Amsterdam University Medical Centre, Amsterdam Neuroscience  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy S.","family":"Frankhuizen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Leiden University Medical Centre  Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wim H.J.P.","family":"Linssen","sequence":"additional","affiliation":[{"name":"Department of Neurology OLVG\u2010West Hospital  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara S.","family":"Straathof","sequence":"additional","affiliation":[{"name":"Department of Neurology Leiden University Medical Centre  Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik H.","family":"Niks","sequence":"additional","affiliation":[{"name":"Department of Neurology Leiden University Medical Centre  Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Faber","sequence":"additional","affiliation":[{"name":"Department of Neurology Maastricht 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