{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T01:11:39Z","timestamp":1780449099946,"version":"3.54.1"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,10,28]],"date-time":"2016-10-28T00:00:00Z","timestamp":1477612800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2017,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Introduction:<\/jats:italic> The dystrophinopathies include a spectrum of muscle diseases caused by mutations in the dystrophin (<jats:italic>DMD<\/jats:italic>) gene. The clinical phenotype ranges from severe Duchenne muscular dystrophy to a mild phenotype with elevated creatine kinase (CK). <jats:italic>Methods:<\/jats:italic> Clinical and molecular assessment of 7 patients carrying a single amino acid loss in the dystrophin protein (p.His1690del) caused by a c.5068_5070delCAC tri\u2010nucleotide deletion in exon 36 of the <jats:italic>DMD<\/jats:italic> gene. <jats:italic>Results:<\/jats:italic> All patients were asymptomatic or oligosymptomatic and had elevated CK levels. Febrile illness, but not exercise, induced muscle symptoms in some patients. None had evidence of cardiomyopathy. Analysis of the short tandem repeat (STR)45 locus and sequencing of exon 36 of the <jats:italic>DMD<\/jats:italic> gene indicates that c.5068_5070delCAC is a founder mutation. <jats:italic>Conclusions:<\/jats:italic> The c.5068_5070delCAC locus in the <jats:italic>DMD<\/jats:italic> gene is associated with a very mild phenotype. Further study is needed to evaluate disease progression in these patients. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>55<\/jats:bold>: 46\u201350, 2017<\/jats:p>","DOI":"10.1002\/mus.25190","type":"journal-article","created":{"date-parts":[[2016,5,14]],"date-time":"2016-05-14T08:29:41Z","timestamp":1463214581000},"page":"46-50","source":"Crossref","is-referenced-by-count":6,"title":["Single amino acid loss in the dystrophin protein associated with a mild clinical phenotype"],"prefix":"10.1002","volume":"55","author":[{"given":"Roser","family":"Pons","sequence":"first","affiliation":[{"name":"First Department of Pediatrics University of Athens, Agia Sophia Children's Hospital, Thivon and Levadias 11527 Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyriaki","family":"Kekou","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Athens, Agia Sophia Children's Hospital, Choremio Research Laboratory Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Artemis","family":"Gkika","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics University of Athens, Agia Sophia Children's Hospital, Thivon and Levadias 11527 Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George","family":"Papadimas","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Athens, Aeginition Hospital Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikolaos","family":"Vogiatzakis","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Athens, Agia Sophia Children's Hospital, Choremio Research Laboratory Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Svingou","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Athens, Agia Sophia Children's Hospital, Choremio Research Laboratory Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Constantinos","family":"Papadopooulos","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Athens, Aeginition Hospital Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ioanis","family":"Nikas","sequence":"additional","affiliation":[{"name":"Imaging Department Agia Sophia Children's Hospital Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Argirios","family":"Dinopoulos","sequence":"additional","affiliation":[{"name":"Third Department of Pediatrics University of Athens, Attiko University Hospital Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sotiris","family":"Youroukos","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics University of Athens, Agia Sophia Children's Hospital, Thivon and Levadias 11527 Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanouel","family":"Kanavakis","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Athens, Agia Sophia Children's Hospital, Choremio Research Laboratory Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,10,28]]},"reference":[{"key":"e_1_2_6_2_1","unstructured":"DarrasBT MillerDT UrionDK.Dystrophinopathies. 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