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Select item 56353131.

Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation

Yuta Kojima, Yu-ichi Noto, Daiki Takewaki, Naoki Tokuda, Kensuke Shiga, Ai Hamano, Ikuko Mizuta, Manabu Muranishi, Takashi Kasai, Masanori Nakagawa, Toshiki Mizuno

Intern Med. 2017 Sep 1; 56(17): 2347–2351. Published online 2017 Aug 10. doi: 10.2169/internalmedicine.6957-15

PMCID:: PMC5635313

Abstract Article PDF–765K

Select item 76932302.

Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related

Eric M. Libell, Julia A. Richardson, Katie L. Lutz, Benton Y. Ng, Shelley R. H. Mockler, Katie M. Laubscher, Carrie M. Stephan, Bridget M. Zimmerman, Erik R. Edens, Benjamin E. Reinking, Katherine D. Mathews

Muscle Nerve. 2020 Nov; 62(5): 626–632. Published online 2020 Sep 10. doi: 10.1002/mus.27052

PMCID:: PMC7693230

Abstract Article PDF–1.1M

Select item 56844453.

DNA-Mediated Gene Therapy in a Mouse Model of Limb Girdle Muscular Dystrophy 2B

Julia Ma, Christophe Pichavant, Haley du Bois, Mital Bhakta, Michele P. Calos

Mol Ther Methods Clin Dev. 2017 Dec 15; 7: 123–131. Published online 2017 Oct 24. doi: 10.1016/j.omtm.2017.10.005

PMCID:: PMC5684445

Abstract Article PDF–1.3M

Select item 77398124.

Variants of CAPN3 cause limb-girdle muscular dystrophy type 2A in two Chinese families

Jie Zheng, Xiaowei Xu, Xinjie Zhang, Xuetao Wang, Jianbo Shu, Chunquan Cai

Exp Ther Med. 2021 Feb; 21(2): 104. Published online 2020 Nov 27. doi: 10.3892/etm.2020.9536

PMCID:: PMC7739812

Abstract Article PDF–680K

Select item 56797265.

Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 (Rumi)

Jianbo Wu, Samuel D. Hunt, Nadine Matthias, Emilia Servián-Morilla, Jonathan Lo, Hamed Jafar-Nejad, Carmen Paradas, Radbod Darabi

Stem Cell Res. Author manuscript; available in PMC 2018 Oct 1.

Published in final edited form as: Stem Cell Res. 2017 Oct; 24: 102–105. Published online 2017 Sep 1. doi: 10.1016/j.scr.2017.08.020

PMCID:: PMC5679726

Abstract Article PDF–560K

Select item 28621826.

CARDIAC PATHOLOGY EXCEEDS SKELETAL MUSCLE PATHOLOGY IN TWO CASES OF LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2I

Marta Margeta, Anne M. Connolly, Thomas L. Winder, Alan Pestronk, Steven A. Moore

Muscle Nerve. Author manuscript; available in PMC 2010 Nov 1.

Published in final edited form as: Muscle Nerve. 2009 Nov; 40(5): 883–889. doi: 10.1002/mus.21432

PMCID:: PMC2862182

Abstract Article PDF–2.1M

Select item 77834247.

LGMD. Identification, description and classification

Corrado Angelini

Acta Myol. 2020 Dec; 39(4): 207–217. Published online 2020 Dec 1. doi: 10.36185/2532-1900-024

PMCID:: PMC7783424

Abstract Article PDF–272K

Select item 28610258.

Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD

Yo Okizuka, Yasuhiro Takeshima, Kyoko Itoh, Zhujun Zhang, Hiroyuki Awano, Koichi Maruyama, Toshiyuki Kumagai, Mariko Yagi, Masafumi Matsuo

BMC Med Genet. 2010; 11: 49. Published online 2010 Mar 30. doi: 10.1186/1471-2350-11-49

PMCID:: PMC2861025

Abstract Article PDF–899K

Select item 77893579.

Sarcoglycan A mutation in miniature dachshund dogs causes limb-girdle muscular dystrophy 2D

James R. Mickelson, Katie M. Minor, Ling T. Guo, Steven G. Friedenberg, Jonah N. Cullen, Amanda Ciavarella, Lydia E. Hambrook, Karen M. Brenner, Sarah E. Helmond, Stanley L. Marks, G. Diane Shelton

Skelet Muscle. 2021; 11: 2. Published online 2021 Jan 7. doi: 10.1186/s13395-020-00257-y

PMCID:: PMC7789357

Abstract Article PDF–1.2M

Select item 402163010.

Limb girdle muscular dystrophy type 2L presenting as necrotizing myopathy

ILKA SCHNEIDER, GISELA STOLTENBURG, MARCUS DESCHAUER, MARTIN WINTERHOLLER, FRANK HANISCH

Acta Myol. 2014 May; 33(1): 19–21.

PMCID:: PMC4021630

Abstract Article PDF–312K

Select item 558873911.

Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy

Elizabeth Harris, Ana Topf, Rita Barresi, Judith Hudson, Helen Powell, James Tellez, Debbie Hicks, Anna Porter, Marta Bertoli, Teresinha Evangelista, Chiara Marini-Betollo, Ólafur Magnússon, Monkol Lek, Daniel MacArthur, Kate Bushby, Hanns Lochmüller, Volker Straub

Orphanet J Rare Dis. 2017; 12: 151. Published online 2017 Sep 6. doi: 10.1186/s13023-017-0699-9

PMCID:: PMC5588739

Abstract Article PDF–1.6M

Select item 558236212.

Limb Girdle Muscular Dystrophy Type 2E Due to a Novel Large Deletion in SGCB Gene

Soudeh GHAFOURI-FARD, Feyzollah HASHEMI-GORJI, Majid FARDAEI, Mohammad MIRYOUNESI

Iran J Child Neurol. 2017 Summer; 11(3): 57–60.

PMCID:: PMC5582362

Abstract Article PDF–779K

Select item 796979213.

Digenic Variants in the TTN and TRAPPC11 Genes Co-segregating With a Limb-Girdle Muscular Dystrophy in a Han Chinese Family

Qian Chen, Wen Zheng, Hongbo Xu, Yan Yang, Zhi Song, Lamei Yuan, Hao Deng

Front Neurosci. 2021; 15: 601757. Published online 2021 Mar 4. doi: 10.3389/fnins.2021.601757

Correction in:: Front Neurosci. 2021; 15: 678618.

PMCID:: PMC7969792

Abstract Article PDF–1.3M

Select item 801547314.

Phenotypic and genotypic analysis of limb-Girdle muscular dystrophy type 2B

Khalid H. Aldosari, Sameer Al-Ghamdi, Khalid M. Alkhathlan, Hisham M. Alkhalidi

Neurosciences (Riyadh) 2020 Jul; 25(3): 214–217. doi: 10.17712/nsj.2020.3.20200002

PMCID:: PMC8015473

Abstract Article PDF–1.1M

Select item 555225815.

Natural disease history of mouse models for limb girdle muscular dystrophy types 2D and 2F

S. Pasteuning-Vuhman, K. Putker, C. L. Tanganyika-de Winter, J. W. Boertje-van der Meulen, L. van Vliet, M. Overzier, J. J. Plomp, A. Aartsma-Rus, M. van Putten

PLoS One. 2017; 12(8): e0182704. Published online 2017 Aug 10. doi: 10.1371/journal.pone.0182704

PMCID:: PMC5552258

Abstract Article PDF–8.4M

Select item 806634616.

Preclinical Systemic Delivery of Adeno-Associated α-Sarcoglycan Gene Transfer for Limb-Girdle Muscular Dystrophy

Danielle A. Griffin, Eric R. Pozsgai, Kristin N. Heller, Rachael A. Potter, Ellyn L. Peterson, Louise R. Rodino-Klapac

Hum Gene Ther. April 2021; 32(7-8): 390–404. Published online 2021 Apr 19. doi: 10.1089/hum.2019.199

PMCID:: PMC8066346

Abstract Article PDF–1.9M

Select item 555072117.

Treadmill Training with HAL Exoskeleton—A Novel Approach for Symptomatic Therapy in Patients with Limb-Girdle Muscular Dystrophy—Preliminary Study

Matthias Sczesny-Kaiser, Rebecca Kowalewski, Thomas A. Schildhauer, Mirko Aach, Oliver Jansen, Dennis Grasmücke, Anne-Katrin Güttsches, Matthias Vorgerd, Martin Tegenthoff

Front Neurosci. 2017; 11: 449. Published online 2017 Aug 8. doi: 10.3389/fnins.2017.00449

PMCID:: PMC5550721

Abstract Article PDF–1012K

Select item 403851218.

A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy

Debbie Hicks, Anna Sarkozy, Nuria Muelas, Katrin Köehler, Angela Huebner, Gavin Hudson, Patrick F. Chinnery, Rita Barresi, Michelle Eagle, Tuomo Polvikoski, Geraldine Bailey, James Miller, Aleksander Radunovic, Paul J. Hughes, Richard Roberts, Sabine Krause, Maggie C. Walter, Steven H. Laval, Volker Straub, Hanns Lochmüller, Kate Bushby

Brain. Author manuscript; available in PMC 2014 May 29.

Published in final edited form as: Brain. 2011 Jan; 134(0 1): 171–182. doi: 10.1093/brain/awq294

PMCID:: PMC4038512

Abstract Article PDF–2.4M

Select item 401399919.

Exome Sequencing Identifies a DNAJB6 Mutation in a Family with Dominantly-Inherited Limb-Girdle Muscular Dystrophy

Julien Couthouis, Alya R. Raphael, Carly Siskind, Andrew R. Findlay, Jason D. Buenrostro, William J. Greenleaf, Hannes Vogel, John W. Day, Kevin M. Flanigan, Aaron D. Gitler

Neuromuscul Disord. Author manuscript; available in PMC 2015 May 1.

Published in final edited form as: Neuromuscul Disord. 2014 May; 24(5): 431–435. Published online 2014 Feb 10. doi: 10.1016/j.nmd.2014.01.014

PMCID:: PMC4013999

Abstract Article PDF–770K

Select item 738968620.

The ties that bind: functional clusters in limb-girdle muscular dystrophy

Elisabeth R. Barton, Christina A. Pacak, Whitney L. Stoppel, Peter B. Kang

Skelet Muscle. 2020; 10: 22. Published online 2020 Jul 29. doi: 10.1186/s13395-020-00240-7

PMCID:: PMC7389686

Abstract Article PDF–1.0M

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PMC Articles for MedGen (Select 151940) (655)
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Schizosaccharomyces pombe cell wall and ascospore endo-1,3-beta-glucanase Eng2 (...
Schizosaccharomyces pombe cell wall and ascospore endo-1,3-beta-glucanase Eng2 (eng2), mRNA
gi|2745690216|ref|NM_001019976.3|

Nucleotide
Homo sapiens cDNA FLJ10512 fis, clone NT2RP2000658
Homo sapiens cDNA FLJ10512 fis, clone NT2RP2000658
gi|7022594|dbj|AK001374.1|

Nucleotide

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