PMC Articles for MedGen (Select 893688) - PMC

Abhinandan Batra, Donovan J. Lott, Rebecca Willcocks, Sean C. Forbes, William Triplett, Jahannaz Dastgir, Pomi Yun, A. Reghan Foley, Carsten G. Bönnemann, Krista Vandenborne, Glenn A. Walter

J Neuromuscul Dis. Author manuscript; available in PMC 2021 Nov 19.

Published in final edited form as: J Neuromuscul Dis. 2020; 7(4): 407–417. doi: 10.3233/JND-190457

PMCID:: PMC8603396

Abstract Article PDF–1.1M

Select item 85139474.

Genotype-Phenotype Correlation of the Childhood-Onset Bethlem Myopathy in the Mediterranean Region of Turkey

Muhammet G. Kutluk, Naz Kadem, Omer Bektas, Nadide C. Randa, Gökcen O. Tuncer, Pelin Albayrak, Tuba Eminoglu, Serap T. Teber

Ann Indian Acad Neurol. 2021 Jul-Aug; 24(4): 547–551. Published online 2021 Apr 5. doi: 10.4103/aian.AIAN_1182_20

PMCID:: PMC8513947

Abstract Article PDF–628K

Select item 78955175.

Use of RNA-sequencing to detect abnormal transcription of the collagen α-2 (VI) chain gene that can lead to Bethlem myopathy

Jingzi Zhong, Yanshu Xie, Yiwu Dang, Jiapeng Zhang, Yingru Song, Dan Lan

Int J Mol Med. 2021 Mar; 47(3): 28. Published online 2021 Jan 28. doi: 10.3892/ijmm.2021.4861

PMCID:: PMC7895517

Abstract Article PDF–760K

Select item 63906146.

COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report

Mengxin Bao, Fei Mao, Zhangning Zhao, Gaoting Ma, Guangjun Xu, Wenjuan Xu, Huan Chen, Meijia Zhu

BMC Neurol. 2019; 19: 32. Published online 2019 Feb 26. doi: 10.1186/s12883-019-1263-0

PMCID:: PMC6390614

Abstract Article PDF–924K

Select item 59532287.

Bethlem myopathy in a Portuguese patient – case report

ANA INÊS MARTINS, CRISTIN MAARQUE, JORGE PINTO-BASTO, LUIS NEGRÃO

Acta Myol. 2017 Sep; 36(3): 178–181. Published online 2017 Sep 1.

PMCID:: PMC5953228

Abstract Article PDF–461K

Select item 52077798.

The collagen VI-related myopathies: Ullrich congenital muscular dystrophy and Bethlem myopathy

Carsten G. Bönnemann

Handb Clin Neurol. Author manuscript; available in PMC 2017 Jan 3.

Published in final edited form as: Handb Clin Neurol. 2011; 101: 81–96. doi: 10.1016/B978-0-08-045031-5.00005-0

PMCID:: PMC5207779

Article PDF–2.3M

Select item 43874859.

Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing

Hyung Jun Park, Young-Chul Choi, Seung Min Kim, Se Hoon Kim, Young Bin Hong, Bo Ram Yoon, Ki Wha Chung, Byung-Ok Choi

J Clin Neurol. 2015 Apr; 11(2): 183–187. Published online 2014 Nov 11. doi: 10.3988/jcn.2015.11.2.183

PMCID:: PMC4387485

Abstract Article PDF–2.1M

Select item 432683510.

Aberrant Mitochondria in a Bethlem Myopathy Patient with a Homozygous Amino Acid Substitution That Destabilizes the Collagen VI α2(VI) Chain

Laura K. Zamurs, Miguel A. Idoate, Eric Hanssen, Asier Gomez-Ibañez, Pau Pastor, Shireen R. Lamandé

J Biol Chem. 2015 Feb 13; 290(7): 4272–4281. Published online 2014 Dec 22. doi: 10.1074/jbc.M114.632208

PMCID:: PMC4326835

Abstract Article PDF–2.4M

Select item 423840811.

Melanocytes from Patients Affected by Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy have Dysfunctional Mitochondria That Can be Rescued with Cyclophilin Inhibitors

Alessandra Zulian, Francesca Tagliavini, Erika Rizzo, Camilla Pellegrini, Francesca Sardone, Nicoletta Zini, Nadir Mario Maraldi, Spartaco Santi, Cesare Faldini, Luciano Merlini, Valeria Petronilli, Paolo Bernardi, Patrizia Sabatelli

Front Aging Neurosci. 2014; 6: 324. Published online 2014 Nov 20. doi: 10.3389/fnagi.2014.00324

PMCID:: PMC4238408

Abstract Article PDF–3.0M

Select item 423507912.

Nutritional Status Evaluation in Patients Affected by Bethlem Myopathy and Ullrich Congenital Muscular Dystrophy

Silvia Toni, Riccardo Morandi, Marcello Busacchi, Lucia Tardini, Luciano Merlini, Nino Carlo Battistini, Massimo Pellegrini

Front Aging Neurosci. 2014; 6: 315. Published online 2014 Nov 17. doi: 10.3389/fnagi.2014.00315

PMCID:: PMC4235079

Abstract Article PDF–1.1M

Select item 384163913.

Bethlem myopathy: An autosomal dominant myopathy with flexion contractures, keloids, and follicular hyperkeratosis

Aralikatte Onkarappa Saroja, Karkal Ravishankar Naik, Atcharayam Nalini, Narayanappa Gayathri

Ann Indian Acad Neurol. 2013 Oct-Dec; 16(4): 712–715. doi: 10.4103/0972-2327.120453

PMCID:: PMC3841639

Abstract Article PDF–1.6M

Select item 379180814.

Body Composition, Muscle Strength, and Physical Function of Patients with Bethlem Myopathy and Ullrich Congenital Muscular Dystrophy

Maria Teresa Miscione, Francesca Bruno, Claudio Ripamonti, Giuliana Nervuti, Riccardo Orsini, Cesare Faldini, Massimo Pellegrini, Daniela Cocchi, Luciano Merlini

ScientificWorldJournal. 2013; 2013: 152684. Published online 2013 Sep 12. doi: 10.1155/2013/152684

PMCID:: PMC3791808

Abstract Article PDF–515K

Select item 351193115.

Spontaneous keloid formation in patients with Bethlem myopathy

James Collins, A. Reghan Foley, Volker Straub, Carsten G. Bönnemann

Neurology. 2012 Nov 20; 79(21): 2158. doi: 10.1212/WNL.0b013e3182752ebc

PMCID:: PMC3511931

Abstract Article PDF–112K

Select item 278790616.

Autosomal Recessive Inheritance of Classic Bethlem Myopathy

A. Reghan Foley, Ying Hu, Yaqun Zou, Alexandra Columbus, John Shoffner, Diane M. Dunn, Robert B. Weiss, Carsten G. Bönnemann

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

Published in final edited form as: Neuromuscul Disord. 2009 Dec; 19(12): 813–817. Published online 2009 Nov 1. doi: 10.1016/j.nmd.2009.09.010

PMCID:: PMC2787906

Abstract Article PDF–568K

Select item 173600017.

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy

A Lampe, D Dunn, A C von Niederhausern, C Hamil, A Aoyagi, S Laval, S Marie, M Chu, K Swoboda, F Muntoni, C Bonnemann, K Flanigan, K Bushby, R Weiss

J Med Genet. 2005 Feb; 42(2): 108–120. doi: 10.1136/jmg.2004.023754

PMCID:: PMC1736000

Summary PDF–164K

Select item 1071316318.

Spontaneous mutation in the COL6A2 gene causing Ullrich congenital muscular dystrophy type 1 in a Chinese child: A case report

Jiayi Li, Shuangzhu Lin, Qiong Wu, Jinhua Feng, Qiandui Chen, Kai Jiang

Medicine (Baltimore) 2023 Dec 8; 102(49): e36398. Published online 2023 Dec 8. doi: 10.1097/MD.0000000000036398

PMCID:: PMC10713163

Abstract Article PDF–508K

Select item 1042018719.

New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients

Luciano Merlini, Patrizia Sabatelli, Francesca Gualandi, Edoardo Redivo, Alberto Di Martino, Cesare Faldini

Int J Mol Sci. 2023 Aug; 24(15): 12474. Published online 2023 Aug 5. doi: 10.3390/ijms241512474

PMCID:: PMC10420187

Abstract Article PDF–3.3M

Select item 1005997320.

Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes

Simona Zanotti, Francesca Magri, Sabrina Salani, Laura Napoli, Michela Ripolone, Dario Ronchi, Francesco Fortunato, Patrizia Ciscato, Daniele Velardo, Maria Grazia D’Angelo, Francesca Gualandi, Vincenzo Nigro, Monica Sciacco, Stefania Corti, Giacomo Pietro Comi, Daniela Piga

Int J Mol Sci. 2023 Mar; 24(6): 5551. Published online 2023 Mar 14. doi: 10.3390/ijms24065551

PMCID:: PMC10059973

Abstract Article PDF–11M

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PMC Articles for MedGen (Select 893688) (82)
PMC
OMIM Links for Gene (Select 9290) (1)
OMIM
putative transmembrane protein [Frankia symbiont of Datisca glomerata]
putative transmembrane protein [Frankia symbiont of Datisca glomerata]
gi|336180321|gnl|REF_jgi|FsymDg_452 |YP_004585696.1|

Protein
MULTISPECIES: histone-like nucleoid-structuring protein Lsr2 [Mycobacterium]
MULTISPECIES: histone-like nucleoid-structuring protein Lsr2 [Mycobacterium]
gi|489514676|ref|WP_003419513.1|

Protein
1877868[uid] (1)
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