Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

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Yuen , M , Sandaradura , S A , Dowling , J J , Kostyukova , A S , Moroz , N , Quinlan , K G , Lehtokari , V-L , Ravenscroft , G , Todd , E J , Ceyhan-Birsoy , O , Gokhin , D S , Maluenda , J , Lek , M , Nolent , F , Pappas , C T , Novak , S M , D'Amico , A , Malfatti , E , Thomas , B P , Gabriel , S B , Gupta , N , Daly , M J , Ilkovski , B , Houweling , P J , Davidson , A E , Swanson , L C , Brownstein , C A , Gupta , V A , Medne , L , Shannon , P , Martin , N , Bick , D P , Flisberg , A , Holmberg , E , Van den Bergh , P , Lapunzina , P , Waddell , L B , Sioboda , D D , Bertini , E , Chitayat , D , Telfer , W R , Laquerriere , A , Gregorio , C C , Ottenheijm , C A C , Boennemann , C G , Pelin , K , Beggs , A H , Hayashi , Y K , Romero , N B , Laing , N G , Nishino , I , Wallgren-Pettersson , C , Melki , J , Fowler , V M , MacArthur , D G , North , K N & Clarke , N F 2014 , ' Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy ' , Journal of Clinical Investigation , vol. 124 , no. 11 , pp. 4693-4708 . https://doi.org/10.1172/JCI75199

Title: Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
Author: Yuen, Michaele; Sandaradura, Sarah A.; Dowling, James J.; Kostyukova, Alla S.; Moroz, Natalia; Quinlan, Kate G.; Lehtokari, Vilma-Lotta; Ravenscroft, Gianina; Todd, Emily J.; Ceyhan-Birsoy, Ozge; Gokhin, David S.; Maluenda, Jerome; Lek, Monkol; Nolent, Flora; Pappas, Christopher T.; Novak, Stefanie M.; D'Amico, Adele; Malfatti, Edoardo; Thomas, Brett P.; Gabriel, Stacey B.; Gupta, Namrata; Daly, Mark J.; Ilkovski, Biljana; Houweling, Peter J.; Davidson, Ann E.; Swanson, Lindsay C.; Brownstein, Catherine A.; Gupta, Vandana A.; Medne, Livija; Shannon, Patrick; Martin, Nicole; Bick, David P.; Flisberg, Anders; Holmberg, Eva; Van den Bergh, Peter; Lapunzina, Pablo; Waddell, Leigh B.; Sioboda, Darcee D.; Bertini, Enrico; Chitayat, David; Telfer, William R.; Laquerriere, Annie; Gregorio, Carol C.; Ottenheijm, Coen A. C.; Boennemann, Carsten G.; Pelin, Katarina; Beggs, Alan H.; Hayashi, Yukiko K.; Romero, Norma B.; Laing, Nigel G.; Nishino, Ichizo; Wallgren-Pettersson, Carina; Melki, Judith; Fowler, Velia M.; MacArthur, Daniel G.; North, Kathryn N.; Clarke, Nigel F.
Contributor: University of Helsinki, Department of Medical and Clinical Genetics
University of Helsinki, Massachusetts General Hospital
University of Helsinki, Biosciences
University of Helsinki, Haartman Institute (-2014)
Date: 2014-11
Language: eng
Number of pages: 16
Belongs to series: Journal of Clinical Investigation
ISSN: 0021-9738
URI: http://hdl.handle.net/10138/234682
Subject: MUSCLE ALPHA-TROPOMYOSIN
SKELETAL-MUSCLE
POINTED-END
N-TERMINUS
ACTIN
TROPOMODULIN
MUTATIONS
LENGTH
POLYMERIZATION
DEFICIENCY
3111 Biomedicine
3121 General medicine, internal medicine and other clinical medicine
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