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The H40Y alpha-actin mutation differently affects limb and respiratory muscle contraction
Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för neurovetenskap, Klinisk neurofysiologi.
Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för neurovetenskap, Klinisk neurofysiologi.
2012 (engelsk)Inngår i: Neuromuscular Disorders, ISSN 0960-8966, E-ISSN 1873-2364, Vol. 22, nr 9-10, s. 844-844Artikkel i tidsskrift, Meeting abstract (Annet vitenskapelig) 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.

sted, utgiver, år, opplag, sider
2012. Vol. 22, nr 9-10, s. 844-844
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URN: urn:nbn:se:uu:diva-185363DOI: 10.1016/j.nmd.2012.06.140ISI: 000310103600129OAI: oai:DiVA.org:uu-185363DiVA, id: diva2:571713
Konferanse
17th International Congress of the World-Muscle-Society (WMS), OCT 09-13, 2012, Perth, AUSTRALIA
Tilgjengelig fra: 2012-11-23 Laget: 2012-11-22 Sist oppdatert: 2017-12-07bibliografisk kontrollert

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