Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

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Sainio , M T , Välipakka , S , Rinaldi , B , Lapatto , H , Paetau , A , Ojanen , S , Brilhante , V , Jokela , M , Huovinen , S , Auranen , M , Palmio , J , Friant , S , Ylikallio , E , Udd , B & Tyynismaa , H 2019 , ' Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy ' , Journal of Neurology , vol. 266 , pp. 353-360 . https://doi.org/10.1007/s00415-018-9137-8

Title: Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy
Author: Sainio, Markus T.; Välipakka, Salla; Rinaldi, Bruno; Lapatto, Helena; Paetau, Anders; Ojanen, Simo; Brilhante, Virginia; Jokela, Manu; Huovinen, Sanna; Auranen, Mari; Palmio, Johanna; Friant, Sylvia; Ylikallio, Emil; Udd, Bjarne; Tyynismaa, Henna
Contributor organization: Centre of Excellence in Stem Cell Metabolism
STEMM - Stem Cells and Metabolism Research Program
Research Programme for Molecular Neurology
Research Programs Unit
Medicum
University of Helsinki
HUSLAB
Department of Pathology
Clinicum
Veterinary Biosciences
Department of Neurosciences
Neurologian yksikkö
Department of Medical and Clinical Genetics
Staff Services
Henna Tyynismaa / Principal Investigator
HUS Neurocenter
Date: 2019
Language: eng
Number of pages: 8
Belongs to series: Journal of Neurology
ISSN: 0340-5354
DOI: https://doi.org/10.1007/s00415-018-9137-8
URI: http://hdl.handle.net/10138/298804
Subject: 3112 Neurosciences
3124 Neurology and psychiatry
Peer reviewed: Yes
Rights: cc_by
Usage restriction: openAccess
Self-archived version: publishedVersion
Funder: Valtion perusrahoitus/hankkeet
FINSKA LÄKARESÄLLSKAPET RF
University of Helsinki
Academy of Finland
Grant number:




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