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Therefore, little is known about the features of this disease in Africans. In this study, we aimed to determine the clinical characteristics of DMD, and the common mutations associated with this condition in a group of Cameroonian patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We recruited DMD patients and performed a general physical examination on each of them. Multiplex ligand\u2010dependant probe amplification was carried out to investigate exon deletions and duplications in the <jats:italic>DMD<\/jats:italic> gene (OMIM: 300377) of patients and their mothers.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 17 male patients from 14 families were recruited, aged 14\u00a0\u00b1\u00a05.1 (8\u201323) years. The mean age at onset of symptoms was 4.6\u00a0\u00b1\u00a01.5\u00a0years, and the mean age at diagnosis was 12.1\u00a0\u00b1\u00a05.2\u00a0years. Proximal muscle weakness was noted in all patients and calf hypertrophy in the large majority of them (88.2%; 15\/17). Flexion contractures were particularly frequent on the ankle (85.7%; 12\/14). Wasting of shoulder girdle and thigh muscles was present in 50% (6\/12) and 46.2% (6\/13) of patients, respectively. No patient presented with hearing impairment. Deletions in <jats:italic>DMD<\/jats:italic> gene (OMIM: 300377) occurred in 45.5% of patients (5\/11), while duplications were observed in 27.3% (3\/11). Both mutation types were clustered between exons 45 and 50, and the proportion of de novo mutation was estimated at 18.2% (2\/11).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Despite the first symptoms of DMD occurring in infancy, the diagnosis is frequently made later in adolescence, indicating an underestimation of the number of cases of DMD in Cameroon. Future screening of deletions and duplications in patients from Cameroon should focus on the distal part of the gene.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1362","type":"journal-article","created":{"date-parts":[[2020,6,16]],"date-time":"2020-06-16T06:18:19Z","timestamp":1592288299000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["<i>DMD<\/i>\u2010related muscular dystrophy in Cameroon: Clinical and genetic profiles"],"prefix":"10.1002","volume":"8","author":[{"given":"Edmond","family":"Wonkam\u2010Tingang","sequence":"first","affiliation":[{"name":"Division of Human Genetics Department of Pathology University of Cape Town Cape Town South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S\u00e9raphin","family":"Nguefack","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Faculty of Medicine and Biomedical Sciences University of Yaound\u00e9 I Yaound\u00e9 Cameroon"},{"name":"Paediatrics Unit Division of Paediatric Neurology Gynaeco\u2010Obstetric and Paediatric Hospital Yaound\u00e9 Cameroon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alina I.","family":"Esterhuizen","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Department of Pathology University of Cape Town Cape Town South Africa"},{"name":"National Health Laboratory Service Groote Schuur Hospital Cape Town South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Chelo","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Faculty of Medicine and Biomedical Sciences University of Yaound\u00e9 I Yaound\u00e9 Cameroon"},{"name":"Division of Paediatric Cardiology, Mother and Child Hospital Yaound\u00e9 Cameroon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1420-9051","authenticated-orcid":false,"given":"Ambroise","family":"Wonkam","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Department of Pathology University of Cape Town Cape Town South Africa"},{"name":"Department of Medicine University of Cape Town Cape Town South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,6,15]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103387"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20586"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.1999.550514.x"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1973.tb05073.x"},{"issue":"6","key":"e_1_2_10_6_1","first-page":"459","article-title":"Relations between delayed diagnosis and forms of onset in Duchenne muscular dystrophy","volume":"130","author":"Alvarez Leal M.","year":"1994","journal-title":"Gaceta Medica De Mexico"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.123463.111"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awr291"},{"issue":"8","key":"e_1_2_10_9_1","first-page":"494","article-title":"Duchenne and Becker muscular dystrophy prevalence in South Africa and molecular findings in 128 persons affected","volume":"84","author":"Ballo R.","year":"1994","journal-title":"South African Medical Journal"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1542\/pir.27-3-83"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(94)90072-8"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880060204"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.41.12.1878"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070107"},{"key":"e_1_2_10_15_1","unstructured":"Center for Human and Clinical Genetics Leiden University Medical Center. 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