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Long term history of a congenital core-rod myopathy with compound heterozygous mutations in the Nebulin gene.
Wunderlich, Gilbert; Brunn, Anna; Daimagüler, Hülya-Sevcan; Bozoglu, Tarik; Fink, Gereon R; Lehmann, Helmar C; Weis, Joachim; Cirak, Sebahattin.
Affiliation
  • Wunderlich G; Department of Neurology, University Hospital Cologne, 50937 Cologne, Germany.
  • Brunn A; Institute for Neuropathology, University of Cologne, 50937 Cologne, Germany.
  • Daimagüler HS; Department of Pediatrics, University Hospital Cologne, 50937 Cologne, Germany.
  • Bozoglu T; Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany.
  • Fink GR; Department of Pediatrics, University Hospital Cologne, 50937 Cologne, Germany.
  • Lehmann HC; Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany.
  • Weis J; Department of Neurology, University Hospital Cologne, 50937 Cologne, Germany.
  • Cirak S; Cognitive Neuroscience, Institute of Neuroscience and Medicine, Research Centre Jülich, 52428 Jülich, Germany.
Acta Myol ; 37(2): 121-127, 2018 Jun.
Article in En | MEDLINE | ID: mdl-30057997
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Myopathies, Nemaline / Muscle, Skeletal / Muscle Proteins Type of study: Prognostic_studies / Screening_studies Limits: Female / Humans / Middle aged Language: En Journal: Acta Myol Journal subject: CARDIOLOGIA / FISIOLOGIA Year: 2018 Type: Article Affiliation country: Germany
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Myopathies, Nemaline / Muscle, Skeletal / Muscle Proteins Type of study: Prognostic_studies / Screening_studies Limits: Female / Humans / Middle aged Language: En Journal: Acta Myol Journal subject: CARDIOLOGIA / FISIOLOGIA Year: 2018 Type: Article Affiliation country: Germany