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Muscle cell and motor protein function in patients with a IIa myosin missense mutation (Glu-706 to Lys)
Department of Clinical Neurophysiology, Uppsala University, Uppsala, Sweden / Department of Neurology, Qilu Hospital, Shandong University, Jinan, China.
Department of Clinical Neurophysiology, Uppsala University, Uppsala, Sweden / Center for Developmental and Health Genetics, The Pennsylvania State University, University Park, PA, USA.
Center for Developmental and Health Genetics, The Pennsylvania State University, University Park, PA, USA.
Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.ORCID-id: 0000-0001-8854-5213
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2006 (engelsk)Inngår i: Neuromuscular Disorders, ISSN 0960-8966, E-ISSN 1873-2364, Vol. 16, nr 11, s. 782-791Artikkel i tidsskrift (Fagfellevurdert) Published
Abstract [en]

The pathogenic events leading to the progressive muscle weakness in patients with a E706K mutation in the head of the myosin heavy chain (MyHC) IIa were analyzed at the muscle cell and motor protein levels. Contractile properties were measured in single muscle fiber segments using the skinned fiber preparation and a single muscle fiber in vitro motility assay. A dramatic impairment in the function of the IIa MyHC isoform was observed at the motor protein level. At the single muscle fiber level, on the other hand, a general decrease was observed in the number of preparations where the specific criteria for acceptance were fulfilled irrespective of MyHC isoform expression. Our results provide evidence that the pathogenesis of the MyHC IIa E706K myopathy involves defective function of the mutated myosin as well as alterations in the structural integrity of all muscle cells irrespective of MyHC isoform expression.

sted, utgiver, år, opplag, sider
Elsevier, 2006. Vol. 16, nr 11, s. 782-791
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URN: urn:nbn:se:his:diva-11973DOI: 10.1016/j.nmd.2006.07.023ISI: 000242494400009PubMedID: 17005402Scopus ID: 2-s2.0-33750474479OAI: oai:DiVA.org:his-11973DiVA, id: diva2:907012
Tilgjengelig fra: 2016-02-25 Laget: 2016-02-25 Sist oppdatert: 2017-11-30bibliografisk kontrollert

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