PMC Articles for MedGen (Select 1842700) - PMC

Elena Zvaritch, Natasha Kraeva, Eric Bombardier, Robert A. McCloy, Frederic Depreux, Douglas Holmyard, Alexander Kraev, Christine E. Seidman, J. G. Seidman, A. Russell Tupling, David H. MacLennan

Proc Natl Acad Sci U S A. 2009 Dec 22; 106(51): 21813–21818. Published online 2009 Dec 3. doi: 10.1073/pnas.0912126106

PMCID:: PMC2788482

Abstract Article PDF–2.0M

Select item 28151996.

Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion

Michael W. Lawlor, Elizabeth T. DeChene, Emily Roumm, Amelia S. Geggel, Behzad Moghadaszadeh, Alan H Beggs

Hum Mutat. Author manuscript; available in PMC 2011 Feb 1.

Published in final edited form as: Hum Mutat. 2010 Feb; 31(2): 176–183. doi: 10.1002/humu.21157

PMCID:: PMC2815199

Abstract Article PDF–212K

Select item 34155457.

Dominant Mutation of CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores

Karen Majczenko, Ann E. Davidson, Sandra Camelo-Piragua, Pankaj B. Agrawal, Richard A. Manfready, Xingli Li, Sucheta Joshi, Jishu Xu, Weiping Peng, Alan H. Beggs, Jun Z. Li, Margit Burmeister, James J. Dowling

Am J Hum Genet. 2012 Aug 10; 91(2): 365–371. doi: 10.1016/j.ajhg.2012.06.012

PMCID:: PMC3415545

Abstract Article PDF–1.2M

Select item 36623248.

Severe congenital RYR1-associated myopathy: The expanding clinicopathologic and genetic spectrum

Diana Xerxes Bharucha-Goebel, Mariarita Santi, Līvija Medne, Kristin Zukosky, Jahannaz Dastgir, Perry B. Shieh, Thomas Winder, Gihan Tennekoon, Richard S. Finkel, James J. Dowling, Nicole Monnier, Carsten G. Bönnemann

Neurology. 2013 Apr 23; 80(17): 1584–1589. doi: 10.1212/WNL.0b013e3182900380

Correction in:: Neurology. 2013 May 28; 80(22): 2081.

PMCID:: PMC3662324

Abstract Article PDF–853K

Select item 37221529.

Variable Myopathic Presentation in a Single Family with Novel Skeletal RYR1 Mutation

Ruben Attali, Sharon Aharoni, Susan Treves, Ori Rokach, Michal Becker Cohen, Yakov Fellig, Rachel Straussberg, Talya Dor, Muhannad Daana, Stella Mitrani-Rosenbaum, Yoram Nevo

PLoS One. 2013; 8(7): e69296. Published online 2013 Jul 24. doi: 10.1371/journal.pone.0069296

PMCID:: PMC3722152

Abstract Article PDF–1.3M

Select item 417387610.

Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene

Norma B Romero, Ting Xie, Edoardo Malfatti, Ursula Schaeffer, Johann Böhm, Bin Wu, Fengping Xu, Samy Boucebci, Stéphane Mathis, Jean-Philippe Neau, Nicole Monnier, Michel Fardeau, Jocelyn Laporte

J Neurol Neurosurg Psychiatry. 2014 Oct; 85(10): 1149–1152. Published online 2014 May 14. doi: 10.1136/jnnp-2013-306754

PMCID:: PMC4173876

Abstract Article PDF–16M

Select item 439531811.

Skeletal Muscle MicroRNA and Messenger RNA Profiling in Cofilin-2 Deficient Mice Reveals Cell Cycle Dysregulation Hindering Muscle Regeneration

Sarah U. Morton, Mugdha Joshi, Talia Savic, Alan H. Beggs, Pankaj B. Agrawal

PLoS One. 2015; 10(4): e0123829. Published online 2015 Apr 13. doi: 10.1371/journal.pone.0123829

PMCID:: PMC4395318

Abstract Article PDF–1.4M

Select item 512584012.

Results of a Two-Year Pilot Study of Clinical Outcome Measures in Collagen VI-related Myopathy and LAMA2-related Muscular Dystrophy

Katherine G. Meilleur, Minal S. Jain, Linda S. Hynan, Ching-Yi Shieh, Eunice Kim, Melissa Waite, Michelle McGuire, Courtney Fiorini, Allan M. Glanzman, Marion Main, Kristy Rose, Tina Duong, Roxanna Bendixen, Melody M. Linton, Irene C. Arveson, Carmel Nichols, Kelly Yang, Kenneth H. Fischbeck, Kathryn R. Wagner, Kathryn North, Ami Mankodi, Christopher Grunseich, Elizabeth J. Hartnett, Michaele Smith, Sandra Donkervoort, Alice Schindler, Angela Kokkinis, Meganne Leach, A. Reghan Foley, James Collins, Francesco Muntoni, Anne Rutkowski, Carsten G Bönnemann

Neuromuscul Disord. Author manuscript; available in PMC 2016 Nov 28.

Published in final edited form as: Neuromuscul Disord. 2015 Jan; 25(1): 43–54. Published online 2014 Sep 28. doi: 10.1016/j.nmd.2014.09.010

PMCID:: PMC5125840

Abstract Article PDF–425K

Select item 561082813.

Antioxidant Treatment Reduces Formation of Structural Cores and Improves Muscle Function in RYR1^Y522S/WT Mice

Antonio Michelucci, Alessandro De Marco, Flavia A. Guarnier, Feliciano Protasi, Simona Boncompagni

Oxid Med Cell Longev. 2017; 2017: 6792694. Published online 2017 Sep 10. doi: 10.1155/2017/6792694

PMCID:: PMC5610828

Abstract Article PDF–6.3M

Select item 561766214.

Deficiency in Kelch protein Klhl31 causes congenital myopathy in mice

James B. Papizan, Glynnis A. Garry, Svetlana Brezprozvannaya, John R. McAnally, Rhonda Bassel-Duby, Ning Liu, Eric N. Olson

J Clin Invest. 2017 Oct 2; 127(10): 3730–3740. Published online 2017 Sep 5. doi: 10.1172/JCI93445

PMCID:: PMC5617662

Abstract Article PDF–16M

Select item 570256715.

RYR1 causing distal myopathy

Ruple S. Laughlin, Zhiyv Niu, Eric Wieben, Margherita Milone

Mol Genet Genomic Med. 2017 Nov; 5(6): 800–804. Published online 2017 Oct 4. doi: 10.1002/mgg3.338

PMCID:: PMC5702567

Abstract Article PDF–1.1M

Select item 1080001816.

Two zebrafish cacna1s loss-of-function variants provide models of mild and severe CACNA1S-related myopathy

Yukari Endo, Linda Groom, Sabrina M Wang, Emanuela Pannia, Nigel W Griffiths, Jenica L M Van Gennip, Brian Ciruna, Jocelyn Laporte, Robert T Dirksen, James J Dowling

Hum Mol Genet. 2024 Feb 1; 33(3): 254–269. Published online 2023 Oct 31. doi: 10.1093/hmg/ddad178

PMCID:: PMC10800018

Abstract Article PDF–3.4M

Select item 610551917.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Emily C. Oates, Kristi J. Jones, Sandra Donkervoort, Amanda Charlton, Susan Brammah, John E. Smith, III, James S. Ware, Kyle S. Yau, Lindsay C. Swanson, Nicola Whiffin, Anthony J. Peduto, Adam Bournazos, Leigh B. Waddell, Michelle A. Farrar, Hugo A. Sampaio, Hooi Ling Teoh, Phillipa J. Lamont, David Mowat, Robin B. Fitzsimons, Alastair J. Corbett, Monique M. Ryan, Gina L. O'Grady, Sarah A. Sandaradura, Roula Ghaoui, Himanshu Joshi, Jamie L. Marshall, Melinda A. Nolan, Simranpreet Kaur, Jaya Punetha, Ana Töpf, Elizabeth Harris, Madhura Bakshi, Casie A. Genetti, Minttu Marttila, Ulla Werlauff, Nathalie Streichenberger, Alan Pestronk, Ingrid Mazanti, Jason R. Pinner, Carole Vuillerot, Carla Grosmann, Ana Camacho, Payam Mohassel, Meganne E. Leach, A. Reghan Foley, Diana Bharucha‐Goebel, James Collins, Anne M. Connolly, Heather R. Gilbreath, Susan T. Iannaccone, Diana Castro, Beryl B. Cummings, Richard I. Webster, Leïla Lazaro, John Vissing, Sandra Coppens, Nicolas Deconinck, Ho‐Ming Luk, Neil H. Thomas, Nicola C. Foulds, Marjorie A. Illingworth, Sian Ellard, Catriona A. McLean, Rahul Phadke, Gianina Ravenscroft, Nanna Witting, Peter Hackman, Isabelle Richard, Sandra T. Cooper, Erik‐Jan Kamsteeg, Eric P. Hoffman, Kate Bushby, Volker Straub, Bjarne Udd, Ana Ferreiro, Kathryn N. North, Nigel F. Clarke, Monkol Lek, Alan H. Beggs, Carsten G. Bönnemann, Daniel G. MacArthur, Henk Granzier, Mark R. Davis, Nigel G. Laing

Ann Neurol. 2018 Jun; 83(6): 1105–1124. Published online 2018 Jul 27. doi: 10.1002/ana.25241

PMCID:: PMC6105519

Abstract Article PDF–13M

Select item 632058518.

‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

Matteo Garibaldi, John Rendu, Julie Brocard, Emmanuelle Lacene, Julien Fauré, Guy Brochier, Maud Beuvin, Clemence Labasse, Angeline Madelaine, Edoardo Malfatti, Jorge Alfredo Bevilacqua, Fabiana Lubieniecki, Soledad Monges, Ana Lia Taratuto, Jocelyn Laporte, Isabelle Marty, Giovanni Antonini, Norma Beatriz Romero

Acta Neuropathol Commun. 2019; 7: 3. Published online 2019 Jan 5. doi: 10.1186/s40478-018-0655-5

PMCID:: PMC6320585

Abstract Article PDF–12M

Select item 642089319.

The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations

G. J. Knuiman, B. Küsters, L. Eshuis, M. Snoeck, M. Lammens, L. Heytens, W. De Ridder, J. Baets, R. S. Scalco, R. Quinlivan, J. Holton, I. Bodi, E. Wraige, A. Radunovic, C. von Landenberg, J. Reimann, E.-J. Kamsteeg, C. Sewry, H. Jungbluth, N. C. Voermans

J Neurol. 2019; 266(4): 876–887. Published online 2019 Feb 20. doi: 10.1007/s00415-019-09209-z

PMCID:: PMC6420893

Abstract Article PDF–1.0M

Select item 654537720.

ACTN2 mutations cause “Multiple structured Core Disease” (MsCD)

Xavière Lornage, Norma B. Romero, Claire A. Grosgogeat, Edoardo Malfatti, Sandra Donkervoort, Michael M. Marchetti, Sarah B. Neuhaus, A. Reghan Foley, Clémence Labasse, Raphaël Schneider, Robert Y. Carlier, Katherine R. Chao, Livija Medne, Jean-François Deleuze, David Orlikowski, Carsten G. Bönnemann, Vandana A. Gupta, Michel Fardeau, Johann Böhm, Jocelyn Laporte

Acta Neuropathol. Author manuscript; available in PMC 2020 Mar 1.

Published in final edited form as: Acta Neuropathol. 2019 Mar; 137(3): 501–519. Published online 2019 Jan 30. doi: 10.1007/s00401-019-01963-8

PMCID:: PMC6545377

Abstract Article PDF–1.8M

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