PMC Articles for MedGen (Select 1806265) - PMC

Select item 72641971.

Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism

Johan Lindqvist, Weikang Ma, Frank Li, Yaeren Hernandez, Justin Kolb, Balazs Kiss, Paola Tonino, Robbert van der Pijl, Esmat Karimi, Henry Gong, Josh Strom, Zaynab Hourani, John E. Smith, III, Coen Ottenheijm, Thomas Irving, Henk Granzier

Nat Commun. 2020; 11: 2699. Published online 2020 Jun 1. doi: 10.1038/s41467-020-16526-9

PMCID:: PMC7264197

Abstract Article PDF–2.5M

Select item 27135982.

The exon 55 deletion in the nebulin gene - one single founder mutation with world-wide occurrence

Vilma-Lotta Lehtokari, Rebecca S. Greenleaf, Elizabeth T. DeChene, Mutsumi Kellinsalmi, Katarina Pelin, Nigel G. Laing, Alan H. Beggs, Carina Wallgren-Pettersson

Neuromuscul Disord. Author manuscript; available in PMC 2010 Mar 1.

Published in final edited form as: Neuromuscul Disord. 2009 Mar; 19(3): 179–181. Published online 2009 Feb 15. doi: 10.1016/j.nmd.2008.12.001

PMCID:: PMC2713598

Abstract Article PDF–43K

Select item 43744073.

Sudden cardiac arrest in a child with nemaline myopathy

Lucia Marseglia, Gabriella D’Angelo, Sara Manti, Vincenzo Salpietro, Teresa Arrigo, Vittorio Cavallari, Eloisa Gitto

Ital J Pediatr. 2015; 41: 20. Published online 2015 Mar 21. doi: 10.1186/s13052-015-0124-8

PMCID:: PMC4374407

Abstract Article PDF–841K

Select item 106066664.

Pharmacological Inhibition of Myostatin in a Mouse Model of Typical Nemaline Myopathy Increases Muscle Size and Force

Johan Lindqvist, Henk Granzier

Int J Mol Sci. 2023 Oct; 24(20): 15124. Published online 2023 Oct 12. doi: 10.3390/ijms242015124

PMCID:: PMC10606666

Abstract Article PDF–2.9M

Select item 101615655.

A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report

Zhiyong Chen, Monica Saini, Jasmine Shimin Koh, Gareth Zigui Lim, Nancy Jiaojiao Dang, Kalpana Prasad, Swee Hoon Koh, Karine Su Shan Tay, Ming Lee, Helen Lisa Ong, Yi Zhao, Ankit Tandon, Josiah Yui Huei Chai

BMC Neurol. 2023; 23: 181. Published online 2023 May 5. doi: 10.1186/s12883-023-03225-3

PMCID:: PMC10161565

Abstract Article PDF–1.8M

Select item 95694676.

Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization

Juliana Gurgel-Giannetti, Lucas Santos Souza, Guilherme L. Yamamoto, Marina Belisario, Monize Lazar, Wilson Campos, Rita de Cassia M. Pavanello, Mayana Zatz, Umbertina Reed, Edmar Zanoteli, Acary Bulle Oliveira, Vilma-Lotta Lehtokari, Erasmo B. Casella, Marcela C. Machado-Costa, Carina Wallgren-Pettersson, Nigel G. Laing, Vincenzo Nigro, Mariz Vainzof

Int J Mol Sci. 2022 Oct; 23(19): 11995. Published online 2022 Oct 9. doi: 10.3390/ijms231911995

PMCID:: PMC9569467

Abstract Article PDF–1.7M

Select item 91706607.

Clinico-pathological features and mutational spectrum of 16 nemaline myopathy patients from a Chinese neuromuscular center

Xi Yin, Chuanqiang Pu, Zhenfu Wang, Ke Li, HuiFang Wang

Acta Neurol Belg. 2022; 122(3): 631–639. Published online 2021 Mar 19. doi: 10.1007/s13760-020-01542-9

PMCID:: PMC9170660

Abstract Article PDF–1.1M

Select item 80553188.

A Cross-Sectional Study of Nemaline Myopathy

Kimberly Amburgey, Meryl Acker, Samia Saeed, Reshma Amin, Alan H. Beggs, Carsten G. Bönnemann, Michael Brudno, Andrei Constantinescu, Jahannaz Dastgir, Mamadou Diallo, Casie A. Genetti, Michael Glueck, Stacy Hewson, Courtney Hum, Minal S. Jain, Michael W. Lawlor, Oscar H. Meyer, Leslie Nelson, Nicole Sultanum, Faiza Syed, Tuyen Tran, Ching H. Wang, James J. Dowling

Neurology. 2021 Mar 9; 96(10): e1425–e1436. doi: 10.1212/WNL.0000000000011458

PMCID:: PMC8055318

Abstract Article PDF–1.0M

Select item 73367599.

The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes

Kit San Yeung, Florrie N. Y. Yu, Cheuk Wing Fung, Sheila Wong, Hencher H. C. Lee, Sharon T. H. Fung, Genevieve P. G. Fung, Kwok Yin Leung, Wai Hang Chung, Yun Ting Lee, Vivian K. S. Ng, Mullin H. C. Yu, Jasmine L. F. Fung, Mandy H. Y. Tsang, Kelvin Y. K. Chan, Sophelia H. S. Chan, Anita S. Y. Kan, Brian H. Y. Chung

Mol Genet Genomic Med. 2020 Jul; 8(7): e1229. Published online 2020 Apr 30. doi: 10.1002/mgg3.1229

PMCID:: PMC7336759

Abstract Article PDF–602K

Select item 632150410.

The Primary Causes of Muscle Dysfunction Associated with the Point Mutations in Tpm3.12; Conformational Analysis of Mutant Proteins as a Tool for Classification of Myopathies

Yurii S. Borovikov, Olga E. Karpicheva, Armen O. Simonyan, Stanislava V. Avrova, Elena A. Rogozovets, Vladimir V. Sirenko, Charles S. Redwood

Int J Mol Sci. 2018 Dec; 19(12): 3975. Published online 2018 Dec 10. doi: 10.3390/ijms19123975

PMCID:: PMC6321504

Abstract Article PDF–4.0M

Select item 591841211.

Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods

Sandra Donkervoort, Sophelia H.S. Chan, Leslie H. Hayes, Nathaniel Bradley, David Nguyen, Meganne E. Leach, Payam Mohassel, Ying Hu, Mathula Thangarajh, Diana Bharucha-Goebel, Amanda Kan, Ronnie S.L. Ho, Christine A. Reyes, Jessica Nance, Steven A. Moore, A. Reghan Foley, Carsten G. Bönnemann

Neuromuscul Disord. Author manuscript; available in PMC 2018 Apr 26.

Published in final edited form as: Neuromuscul Disord. 2017 Jun; 27(6): 531–536. Published online 2017 Mar 2. doi: 10.1016/j.nmd.2017.02.012

PMCID:: PMC5918412

Abstract Article PDF–722K

Select item 522305712.

Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy

Satoko Miyatake, Satomi Mitsuhashi, Yukiko K. Hayashi, Enkhsaikhan Purevjav, Atsuko Nishikawa, Eriko Koshimizu, Mikiya Suzuki, Kana Yatabe, Yuzo Tanaka, Katsuhisa Ogata, Satoshi Kuru, Masaaki Shiina, Yoshinori Tsurusaki, Mitsuko Nakashima, Takeshi Mizuguchi, Noriko Miyake, Hirotomo Saitsu, Kazuhiro Ogata, Mitsuru Kawai, Jeffrey Towbin, Ikuya Nonaka, Ichizo Nishino, Naomichi Matsumoto

Am J Hum Genet. 2017 Jan 5; 100(1): 169–178. Published online 2016 Dec 22. doi: 10.1016/j.ajhg.2016.11.017

PMCID:: PMC5223057

Abstract Article PDF–2.0M

Select item 423493213.

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype

Edoardo Malfatti, Vilma-Lotta Lehtokari, Johann Böhm, Josine M De Winter, Ursula Schäffer, Brigitte Estournet, Susana Quijano-Roy, Soledad Monges, Fabiana Lubieniecki, Remi Bellance, Mai Thao Viou, Angéline Madelaine, Bin Wu, Ana Lía Taratuto, Bruno Eymard, Katarina Pelin, Michel Fardeau, Coen AC Ottenheijm, Carina Wallgren-Pettersson, Jocelyn Laporte, Norma B Romero

Acta Neuropathol Commun. 2014; 2: 44. Published online 2014 Apr 12. doi: 10.1186/2051-5960-2-44

PMCID:: PMC4234932

Abstract Article PDF–2.0M

Select item 281519914.

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 2677915.

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

Katarina Pelin, Pirta Hilpelä, Kati Donner, Caroline Sewry, Patrick A. Akkari, Stephen D. Wilton, Duangrurdee Wattanasirichaigoon, Marie-Louise Bang, Thomas Centner, Folker Hanefeld, Sylvie Odent, Michel Fardeau, J. Andoni Urtizberea, Francesco Muntoni, Victor Dubowitz, Alan H. Beggs, Nigel G. Laing, Siegfried Labeit, Albert de la Chapelle, Carina Wallgren-Pettersson

Proc Natl Acad Sci U S A. 1999 Mar 2; 96(5): 2305–2310. doi: 10.1073/pnas.96.5.2305

PMCID:: PMC26779

Abstract Article PDF–455K

Select item 323515016.

Actin Nemaline Myopathy Mouse Reproduces Disease, Suggests Other Actin Disease Phenotypes and Provides Cautionary Note on Muscle Transgene Expression

Gianina Ravenscroft, Connie Jackaman, Caroline A. Sewry, Elyshia McNamara, Sarah E. Squire, Allyson C. Potter, John Papadimitriou, Lisa M. Griffiths, Anthony J. Bakker, Kay E. Davies, Nigel G. Laing, Kristen J. Nowak

PLoS One. 2011; 6(12): e28699. Published online 2011 Dec 9. doi: 10.1371/journal.pone.0028699

PMCID:: PMC3235150

Abstract Article PDF–4.1M

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