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A Mild But Typical Presentation of Bethlem Myopathy With a Novel In-Frame Deletion in COL6A1: Almost Overlooked.
Wilpert, Nina-Maria; Schuelke, Markus; Lala, Birgit; Weiß, Claudia.
Afiliação
  • Wilpert NM; From the Department of Neuropediatrics (N.-M.W., M.S., C.W.); Center for Chronically Sick Children (N.-M.W., M.S., C.W.), Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin; BIH Charité Junior Clinician Scientist Program (N.-M.W.), Berl
  • Schuelke M; From the Department of Neuropediatrics (N.-M.W., M.S., C.W.); Center for Chronically Sick Children (N.-M.W., M.S., C.W.), Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin; BIH Charité Junior Clinician Scientist Program (N.-M.W.), Berl
  • Lala B; From the Department of Neuropediatrics (N.-M.W., M.S., C.W.); Center for Chronically Sick Children (N.-M.W., M.S., C.W.), Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin; BIH Charité Junior Clinician Scientist Program (N.-M.W.), Berl
  • Weiß C; From the Department of Neuropediatrics (N.-M.W., M.S., C.W.); Center for Chronically Sick Children (N.-M.W., M.S., C.W.), Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin; BIH Charité Junior Clinician Scientist Program (N.-M.W.), Berl
Neurology ; 102(11): e209476, 2024 Jun.
Article em En | MEDLINE | ID: mdl-38754040
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Colágeno Tipo VI Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Colágeno Tipo VI Idioma: En Ano de publicação: 2024 Tipo de documento: Article