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Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy.
Stavusis, Janis; Lace, Baiba; Schäfer, Jochen; Geist, Janelle; Inashkina, Inna; Kidere, Dita; Pajusalu, Sander; Wright, Nathan T; Saak, Annika; Weinhold, Manja; Haubenberger, Dietrich; Jackson, Sandra; Kontrogianni-Konstantopoulos, Aikaterini; Bönnemann, Carsten G.
Affiliation
  • Stavusis J; Latvian Biomedical Research and Study Centre, Riga, Latvia.
  • Lace B; Latvian Biomedical Research and Study Centre, Riga, Latvia.
  • Schäfer J; Centre Hospitalier Universitaire de Québec, Ville de Québec, QC, Canada.
  • Geist J; Department of Neurology-Uniklinikum CG Carus, Dresden, Germany.
  • Inashkina I; Department of Biochemistry and Molecular Biology, University of Maryland School of Medicine, Baltimore, MD.
  • Kidere D; Latvian Biomedical Research and Study Centre, Riga, Latvia.
  • Pajusalu S; Latvian Biomedical Research and Study Centre, Riga, Latvia.
  • Wright NT; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
  • Saak A; Department of Clinical Genetics, Institute of Clinical Medicine, Tartu University, Tartu, Estonia.
  • Weinhold M; Department of Chemistry and Biochemistry, James Madison University, Harrisonburg, VA.
  • Haubenberger D; Department of Neurology-Uniklinikum CG Carus, Dresden, Germany.
  • Jackson S; Department of Neurology-Uniklinikum CG Carus, Dresden, Germany.
  • Kontrogianni-Konstantopoulos A; Clinical Trials Unit, Office of the Clinical Director, NINDS Intramural Research Program, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD.
  • Bönnemann CG; Department of Neurology-Uniklinikum CG Carus, Dresden, Germany.
Ann Neurol ; 86(1): 129-142, 2019 07.
Article in En | MEDLINE | ID: mdl-31025394
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Tremor / Carrier Proteins / Mutation, Missense / Muscular Diseases Type of study: Prognostic_studies / Qualitative_research / Risk_factors_studies Limits: Adult / Female / Humans / Male / Middle aged Language: En Journal: Ann Neurol Year: 2019 Type: Article Affiliation country: Latvia
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Tremor / Carrier Proteins / Mutation, Missense / Muscular Diseases Type of study: Prognostic_studies / Qualitative_research / Risk_factors_studies Limits: Adult / Female / Humans / Male / Middle aged Language: En Journal: Ann Neurol Year: 2019 Type: Article Affiliation country: Latvia