{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,3]],"date-time":"2026-01-03T15:13:54Z","timestamp":1767453234161,"version":"3.40.5"},"reference-count":12,"publisher":"American Academy of Pediatrics (AAP)","issue":"Supplement_5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,4,1]]},"abstract":"<jats:p>X-linked recessive mutations in the dystrophin gene are one of the most common causes of inherited neuromuscular disorders in humans. Duchenne muscular dystrophy, the most common phenotype, and Becker muscular dystrophy are often recognizable by certain clinical features; however, less frequent presentations require a higher degree of suspicion. In this article, we describe a series of 6 children (4 boys, 2 girls) referred to a tertiary pediatric neuromuscular clinic for isolated elevated creatine kinase levels (range: 720\u20137000 IU\/L) identified on initial assessment for otherwise unexplained transaminase elevations (n = 2), a social communication disorder (n = 3), and exertional myalgia and\/or rhabdomyolysis (n = 1). There was no preceding family history of neuromuscular disease. One boy had an additional history of severe cerebral palsy and cyclical vomiting, and 1 girl had a history of maternal hepatitis C. There was no significant weakness at presentation, and the majority remained stable over a prolonged period of follow-up (age range at last follow-up: 9\u201316 years). All 6 children were found to carry dystrophin gene mutations resulting in milder phenotypes. This series highlights that dystrophinopathies may not uncommonly present with features distinct from the classic Duchenne muscular dystrophy and Becker muscular dystrophy phenotypes in both boys and girls. Pediatricians should be aware of such atypical presentations to initiate a timely and adequate diagnostic process. Establishing the correct genetic diagnosis of a dystrophinopathy is important to allow appropriate genetic counseling, to implement relevant surveillance and management strategies, and to avoid unnecessary investigations in search of an incorrect alternative diagnosis.<\/jats:p>","DOI":"10.1542\/peds.2017-2391","type":"journal-article","created":{"date-parts":[[2018,4,2]],"date-time":"2018-04-02T08:35:25Z","timestamp":1522658125000},"page":"S510-S514","source":"Crossref","is-referenced-by-count":6,"title":["Unusual Presentations of Dystrophinopathies in Childhood"],"prefix":"10.1542","volume":"141","author":[{"given":"Nicholas M.","family":"Allen","sequence":"first","affiliation":[{"name":"Department of Paediatric Neurology, Neuromuscular Service, Evelina\u2019s Children Hospital, Guy\u2019s and St Thomas\u2019 Hospital National Health Service Foundation Trust, London, United Kingdom;"},{"name":"Department of Paediatrics, National University of Ireland and Galway University Hospital, Galway, Ireland; and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alice","family":"Ewer","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Neuromuscular Service, Evelina\u2019s Children Hospital, Guy\u2019s and St Thomas\u2019 Hospital National Health Service Foundation Trust, London, United Kingdom;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vasiliki","family":"Nakou","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Neuromuscular Service, Evelina\u2019s Children Hospital, Guy\u2019s and St Thomas\u2019 Hospital National Health Service Foundation Trust, London, United Kingdom;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ele","family":"Konstantoulaki","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Neuromuscular Service, Evelina\u2019s Children Hospital, Guy\u2019s and St Thomas\u2019 Hospital National Health Service Foundation Trust, London, United Kingdom;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth","family":"Wraige","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Neuromuscular Service, Evelina\u2019s Children Hospital, Guy\u2019s and St Thomas\u2019 Hospital National Health Service Foundation Trust, London, United Kingdom;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vasantha","family":"Gowda","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Neuromuscular Service, Evelina\u2019s Children Hospital, Guy\u2019s and St Thomas\u2019 Hospital National Health Service Foundation Trust, London, United Kingdom;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heinz","family":"Jungbluth","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Neuromuscular Service, Evelina\u2019s Children Hospital, Guy\u2019s and St Thomas\u2019 Hospital National Health Service Foundation Trust, London, United Kingdom;"},{"name":"Randall Division of Cell and Molecular Biophysics, Muscle Signalling Section, and"},{"name":"Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, King\u2019s College, London, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"417","published-online":{"date-parts":[[2018,4,1]]},"reference":[{"issue":"3","key":"2021121014502211100_B1","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1002\/ana.23528","article-title":"Evidence-based path to newborn screening for Duchenne muscular dystrophy.","volume":"71","author":"Mendell","year":"2012","journal-title":"Ann Neurol"},{"issue":"6","key":"2021121014502211100_B2","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1016\/j.nmd.2014.03.008","article-title":"A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy.","volume":"24","author":"Mah","year":"2014","journal-title":"Neuromuscul Disord"},{"issue":"11","key":"2021121014502211100_B3","doi-asserted-by":"crossref","first-page":"1877","DOI":"10.1093\/hmg\/2.11.1877","article-title":"Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients.","volume":"2","author":"Lenk","year":"1993","journal-title":"Hum Mol Genet"},{"issue":"6","key":"2021121014502211100_B4","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1111\/j.1468-1331.2010.03012.x","article-title":"EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia.","volume":"17","author":"Kyriakides","year":"2010","journal-title":"Eur J Neurol"},{"issue":"1","key":"2021121014502211100_B5","doi-asserted-by":"crossref","DOI":"10.1542\/peds.2010-0929","article-title":"Serum transaminase levels in boys with Duchenne and Becker muscular dystrophy.","volume":"127","author":"McMillan","year":"2011","journal-title":"Pediatrics"},{"issue":"10","key":"2021121014502211100_B6","doi-asserted-by":"crossref","first-page":"886","DOI":"10.1111\/j.1440-1754.2010.01730.x","article-title":"Aminotransferases and muscular diseases: a disregarded lesson. Case reports and review of the literature.","volume":"48","author":"Veropalumbo","year":"2012","journal-title":"J Paediatr Child Health"},{"key":"2021121014502211100_B7","volume-title":"Muscle Disorders in Childhood","author":"Dubowitz","year":"1995","edition":"2nd ed."},{"issue":"5","key":"2021121014502211100_B8","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1007\/BF00838159","article-title":"Exercise intolerance and recurrent myoglobinuria as the only expression of Xp21 Becker type muscular dystrophy.","volume":"240","author":"Doriguzzi","year":"1993","journal-title":"J Neurol"},{"issue":"10","key":"2021121014502211100_B9","doi-asserted-by":"crossref","first-page":"1277","DOI":"10.1212\/WNL.39.10.1277","article-title":"Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene.","volume":"39","author":"Gospe","year":"1989","journal-title":"Neurology"},{"issue":"2","key":"2021121014502211100_B10","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1002\/mus.880150214","article-title":"Becker muscular dystrophy: detection of unusual disease courses by combined approach to dystrophin analysis.","volume":"15","author":"Gold","year":"1992","journal-title":"Muscle Nerve"},{"issue":"1","key":"2021121014502211100_B11","first-page":"54","article-title":"Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies.","volume":"49","author":"Beggs","year":"1991","journal-title":"Am J Hum Genet"},{"issue":"4","key":"2021121014502211100_B12","doi-asserted-by":"crossref","first-page":"562","DOI":"10.1038\/ejhg.2015.135","article-title":"Ocular and neurodevelopmental features of Duchenne muscular dystrophy: a signature of dystrophin function in the central nervous system.","volume":"24","author":"Ricotti","year":"2016","journal-title":"Eur J Hum Genet"}],"container-title":["Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/141\/Supplement_5\/S510\/887171\/peds_20172391.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/141\/Supplement_5\/S510\/887171\/peds_20172391.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,11]],"date-time":"2021-12-11T04:23:59Z","timestamp":1639196639000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.aap.org\/pediatrics\/article\/141\/Supplement_5\/S510\/34471\/Unusual-Presentations-of-Dystrophinopathies-in"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,4,1]]},"references-count":12,"journal-issue":{"issue":"Supplement_5","published-online":{"date-parts":[[2018,4,1]]},"published-print":{"date-parts":[[2018,4,1]]}},"URL":"https:\/\/doi.org\/10.1542\/peds.2017-2391","relation":{},"ISSN":["0031-4005","1098-4275"],"issn-type":[{"type":"print","value":"0031-4005"},{"type":"electronic","value":"1098-4275"}],"subject":[],"published":{"date-parts":[[2018,4,1]]}}}