Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
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Author / Creator
Yuen, Michaela , 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, Jérome , 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 , Sloboda, Darcée D , Bertini, Enrico , Chitayat, David , Telfer, William R , Laquerrière, Annie , Gregorio, Carol C , Ottenheijm, Coen A C , Bönnemann, 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 and Clarke, Nigel F
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
Formats
Publication information
Publisher
United States: American Society for Clinical Investigation
Subjects
More information
Scope and Contents
Contents
Nemaline myopathy (NM) is a genetic muscle disorder characterized by muscle dysfunction and electron-dense protein accumulations (nemaline bodies) in myofibers. Pathogenic mutations have been described in 9 genes to date, but the genetic basis remains unknown in many cases. Here, using an approach that combined whole-exome sequencing (WES) and Sang...
Alternative Titles
Full title
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
Authors, Artists and Contributors
Author / Creator
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, Jérome
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
Sloboda, Darcée D
Bertini, Enrico
Chitayat, David
Telfer, William R
Laquerrière, Annie
Gregorio, Carol C
Ottenheijm, Coen A C
Bönnemann, 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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4347224
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4347224
Other Identifiers
ISSN
0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI75199
