Actininopathy : A new muscular dystrophy caused by ACTN2 dominant mutations

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Savarese , M , Palmio , J , Poza , J J , Weinberg , J , Olive , M , Cobo , A M , Vihola , A , Jonson , P H , Sarparanta , J , Garcia-Bragado , F , Urtizberea , J A , Hackman , P & Udd , B 2019 , ' Actininopathy : A new muscular dystrophy caused by ACTN2 dominant mutations ' , Annals of Neurology , vol. 85 , no. 6 , pp. 899-906 . https://doi.org/10.1002/ana.25470

Title: Actininopathy : A new muscular dystrophy caused by ACTN2 dominant mutations
Author: Savarese, Marco; Palmio, Johanna; Poza, Juan Jose; Weinberg, Jan; Olive, Montse; Cobo, Ana Maria; Vihola, Anna; Jonson, Per Harald; Sarparanta, Jaakko; Garcia-Bragado, Federico; Urtizberea, Jon Andoni; Hackman, Peter; Udd, Bjarne
Contributor: University of Helsinki, Department of Medical and Clinical Genetics
University of Helsinki, Medicum
University of Helsinki, Department of Medical and Clinical Genetics
University of Helsinki, Medicum
University of Helsinki, Medicum
University of Helsinki, Medicum
Date: 2019-06
Language: eng
Number of pages: 8
Belongs to series: Annals of Neurology
ISSN: 0364-5134
URI: http://hdl.handle.net/10138/313509
Abstract: Objective To clinically and pathologically characterize a cohort of patients presenting with a novel form of distal myopathy and to identify the genetic cause of this new muscular dystrophy. Methods We studied 4 families (3 from Spain and 1 from Sweden) suffering from an autosomal dominant distal myopathy. Affected members showed adult onset asymmetric distal muscle weakness with initial involvement of ankle dorsiflexion later progressing also to proximal limb muscles. Results In all 3 Spanish families, we identified a unique missense variant in the ACTN2 gene cosegregating with the disease. The affected members of the Swedish family carry a different ACTN2 missense variant. Interpretation ACTN2 encodes for alpha actinin2, which is highly expressed in the sarcomeric Z-disk with a major structural and functional role. Actininopathy is thus a new genetically determined distal myopathy. ANN NEUROL 2019;85:899-906.
Subject: ALPHA-ACTININ
PROTEIN
ALPHA-ACTININ-2
CARDIOMYOPATHY
DOMAIN
GENES
3111 Biomedicine
3112 Neurosciences
3124 Neurology and psychiatry
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