{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:21:59Z","timestamp":1760145719667,"version":"build-2065373602"},"reference-count":22,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2024,8,30]],"date-time":"2024-08-30T00:00:00Z","timestamp":1724976000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Bulgarian National Science Fund","award":["B02\/240","BG-RRP-2.004-0004-C01"],"award-info":[{"award-number":["B02\/240","BG-RRP-2.004-0004-C01"]}]},{"name":"European Union-Next Generation EU","award":["B02\/240","BG-RRP-2.004-0004-C01"],"award-info":[{"award-number":["B02\/240","BG-RRP-2.004-0004-C01"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Sarcoglycanopathies are among the most frequent and severe forms of autosomal recessive forms of limb-girdle muscular dystrophies (LGMDs) with childhood onset. Four subtypes are known: LGMDR3, LGMDR4, LGMDR5 and LGMDR6, which are caused, respectively, by mutations in the SGCA, SGCB,\u00a0SGCG and SGCD genes. We present the clinical variability of LGMD 2C\/R5 among a genetically homogeneous group of 57 patients, belonging to 35 pedigrees. Molecular genetic analysis showed that all 57 patients were homozygous for the C283Y variant. The muscles of the pelvic girdle and the trunk were affected early and were more severely affected, followed by the shoulder girdle. Macroglossia, hypertrophy of the calves, scapular winging and lumbar hyperlordosis were common in the ambulatory phase. A great intra and interfamilial variability in the clinical presentation of LGMD 2C\/R5 was observed, despite having the same underlying molecular defect. Females demonstrated a relatively milder clinical course compared to males. Mean creatine phosphokinase (CK) CK levels were 20 times above normal values. Muscle computer tomography (CT) CT or MRIs showed earlier and more severe involvement of the flexor proximal limb muscles in comparison to extensor muscles.<\/jats:p>","DOI":"10.3390\/genes15091144","type":"journal-article","created":{"date-parts":[[2024,8,30]],"date-time":"2024-08-30T06:46:29Z","timestamp":1725000389000},"page":"1144","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Phenotypic Variability of LGMD 2C\/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma"],"prefix":"10.3390","volume":"15","author":[{"given":"Ani","family":"Taneva","sequence":"first","affiliation":[{"name":"Department of Neurology, University Hospital \u201cAlexandrovska\u201d, Medical University Sofia, 1431 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Gresham","sequence":"additional","affiliation":[{"name":"Center for Genomics and Systems Biology, Department of Biology, New York University, New York, NY 10012, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Velina","family":"Guergueltcheva","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Hospital Sofiamed, 1797 Sofia, Bulgaria"},{"name":"Department of Neurology, Sofia University \u201cSt. Kliment Ohridski\u201d, 1504 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5142-5007","authenticated-orcid":false,"given":"Teodora","family":"Chamova","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Hospital \u201cAlexandrovska\u201d, Medical University Sofia, 1431 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veneta","family":"Bojinova","sequence":"additional","affiliation":[{"name":"Clinic of Child Neurology, University Hospital of Neurology and Psychiatry \u201cSt\u2019 Naum\u201d, 1113 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariana","family":"Gospodinova","sequence":"additional","affiliation":[{"name":"Diagnostic and Consultative Centre, University Hospital St Ivan Rilski, 1000 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Katzarova","sequence":"additional","affiliation":[{"name":"Department of Orthopedy, USBALO \u201cProf. B. Boychev\u201d, Medical University Sofia, 1431 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Radoslav","family":"Petkov","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Hospital Sofiamed, 1797 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Voit","sequence":"additional","affiliation":[{"name":"National Institute for Health and Care Research Great Ormond Street Hospital Biomedical Research Centre, University College London Great Ormond Street Institute of Child Health, London WC1N 1EH, UK"},{"name":"Great Ormond Street Hospital for Children, NHS Foundation Trust, London WC1N 3JH, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lidia","family":"Aneva","sequence":"additional","affiliation":[{"name":"Clinical Laboratory, Regional Hospital\u2013Blagoevgrad, 2700 Blagoevgrad, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ognyan","family":"Asenov","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Hospital \u201cAlexandrovska\u201d, Medical University Sofia, 1431 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bilyana","family":"Georgieva","sequence":"additional","affiliation":[{"name":"Department of Medical Chemistry and Biochemistry, Medical University of Sofia, 1431 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7421-7179","authenticated-orcid":false,"given":"Violeta","family":"Mihaylova","sequence":"additional","affiliation":[{"name":"Neurocenter, Kantonal Hospital Lucerne, 6000 Lucerne, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stoyan","family":"Bichev","sequence":"additional","affiliation":[{"name":"National Genetics Laboratory, University Hospital of Obstetrics and Gynecology\u2013\u201cMaichin Dom\u201d, 1431 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tihomir","family":"Todorov","sequence":"additional","affiliation":[{"name":"Genetic Medico-Diagnostic Laboratory Genica, 1612 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Albena","family":"Todorova","sequence":"additional","affiliation":[{"name":"Department of Medical Chemistry and Biochemistry, Medical University of Sofia, 1431 Sofia, Bulgaria"},{"name":"Genetic Medico-Diagnostic Laboratory Genica, 1612 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luba","family":"Kalaydjieva","sequence":"additional","affiliation":[{"name":"Centre for Medical Research, Harry Perkins Institute of Medical Research, The University of Western Australia, Perth 6009, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivailo","family":"Tournev","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Hospital \u201cAlexandrovska\u201d, Medical University Sofia, 1431 Sofia, Bulgaria"},{"name":"Department of Cognitive Science and Psychology, New Bulgarian University, 1618 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,8,30]]},"reference":[{"key":"ref_1","first-page":"207","article-title":"LGMD. 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Disord."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/15\/9\/1144\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T15:45:29Z","timestamp":1760111129000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/15\/9\/1144"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,30]]},"references-count":22,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2024,9]]}},"alternative-id":["genes15091144"],"URL":"https:\/\/doi.org\/10.3390\/genes15091144","relation":{},"ISSN":["2073-4425"],"issn-type":[{"type":"electronic","value":"2073-4425"}],"subject":[],"published":{"date-parts":[[2024,8,30]]}}}