A Female Patient with Xq28 Microduplication Presenting with Myotubular Myopathy, Confirmed with a Custom-Designed X-array.

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Bibliographic Details
Title: A Female Patient with Xq28 Microduplication Presenting with Myotubular Myopathy, Confirmed with a Custom-Designed X-array.
Authors: Kosma K; Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Mitrakos A; Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Sofokleous C; Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.; Medical School, National and Kapodistrian University of Athens, Research Institute for the Study of Genetic and Malignant Diseases in Childhood, 'Aghia Sophia' Children's Hospital, Athens, Greece., Papadimas G; 1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Fryssira H; Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Kitsiou-Tzeli S; Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Tzetis M; Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Source: Neuropediatrics [Neuropediatrics] 2019 Feb; Vol. 50 (1), pp. 61-63. Date of Electronic Publication: 2018 Dec 12.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Hippokrates Verlag Country of Publication: Germany NLM ID: 8101187 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1439-1899 (Electronic) Linking ISSN: 0174304X NLM ISO Abbreviation: Neuropediatrics Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1439-1899
DOI:10.1055/s-0038-1676513