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The H40Y alpha-actin mutation differently affects limb and respiratory muscle contraction
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
2012 (English)In: Neuromuscular Disorders, ISSN 0960-8966, E-ISSN 1873-2364, Vol. 22, no 9-10, 844-844 p.Article in journal, Meeting abstract (Other academic) Published
Abstract [en]

Nemaline myopathy is the most common of the congenital non-dystrophic myopathies, with an estimated incidence of 1:50,000. The severe form of this disease is characterized by generalized weakness especially affecting limb and respiratory muscles. Questions that remain unanswered are (i) whether limb and respiratory muscles are affected to the same extent, and (ii) whether the underlying mechanisms are similar. The aim of the present study was to address these questions in a novel transgenic mouse model of severe nemaline myopathy. This model expresses the heterozygous amino acid substitution, H40Y, in skeletal α-actin. Hence, we dissected EDL and diaphragm muscles and evaluated the contraction mechanism. To our surprise, we observed muscle-specific defects that will be presented during the conference. These findings give valuable information for future potential therapeutic interventions.

Place, publisher, year, edition, pages
2012. Vol. 22, no 9-10, 844-844 p.
National Category
Medical and Health Sciences
Identifiers
URN: urn:nbn:se:uu:diva-185363DOI: 10.1016/j.nmd.2012.06.140ISI: 000310103600129OAI: oai:DiVA.org:uu-185363DiVA: diva2:571713
Conference
17th International Congress of the World-Muscle-Society (WMS), OCT 09-13, 2012, Perth, AUSTRALIA
Available from: 2012-11-23 Created: 2012-11-22 Last updated: 2017-12-07Bibliographically approved

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Lindqvist, Johan M.Ochala, Julien

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