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Items: 15

1.
Novel compound heterozygous mutations of LAMA2-limb–girdle muscular dystrophy: A case report and literature review
Duo-Zi Wang, Bing-Hu Li, Qiong Ma, Zhou Yu, Kai Chen, Ying He, Song Tan
Front Neurol. 2023; 14: 1078151. Published online 2023 Feb 13. doi: 10.3389/fneur.2023.1078151
PMCID:
PMC9968920
AbstractArticlePDF–947K
2.
Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant
Matthew Katz, Leigh B. Waddell, Michaela Yuen, Samantha J. Bryen, Emily Oates, Fleur C. Garton, Thomas Robertson, Robert David Henderson, Sandra T. Cooper, Pamela A. McCombe
Front Neurol. 2023; 14: 1055639. Published online 2023 Jan 27. doi: 10.3389/fneur.2023.1055639
PMCID:
PMC9911805
AbstractArticlePDF–2.3M
3.
Evidence of Two Novel LAMA2 Variants in a Patient With Muscular Dystrophy: Facing the Challenges of a Certain Diagnosis
Stefanie Meyer, Silke Kaulfuß, Sabrina Zechel, Karsten Kummer, Ali Seif Amir Hosseini, Marielle Sophie Ernst, Jens Schmidt, Silke Pauli, Jana Zschüntzsch
Front Neurol. 2022; 13: 893605. Published online 2022 Jul 19. doi: 10.3389/fneur.2022.893605
PMCID:
PMC9344914
AbstractArticlePDF–1.4M
4.
Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort
Dandan Tan, Lin Ge, Yanbin Fan, Xingzhi Chang, Shuang Wang, Cuijie Wei, Juan Ding, Aijie Liu, Shuo Wang, Xueying Li, Kai Gao, Haipo Yang, Chengli Que, Zhen Huang, Chunde Li, Ying Zhu, Bing Mao, Bo Jin, Ying Hua, Xiaoli Zhang, Bingbing Zhang, Wenhua Zhu, Cheng Zhang, Yanjuan Wang, Yun Yuan, Yuwu Jiang, Anne Rutkowski, Carsten G. Bönnemann, Xiru Wu, Hui Xiong
Orphanet J Rare Dis. 2021; 16: 319. Published online 2021 Jul 19. doi: 10.1186/s13023-021-01950-x
PMCID:
PMC8287797
AbstractArticlePDF–3.2M
5.
Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review
Paulo José Lorenzoni, Cláudia Suemi Kamoi Kay, Renata Dal-Pra Ducci, Otto Jesus Hernandez Fustes, Paula Raquel do Vale Pascoal Rodrigues, Nyvia Milicio Coblinski Hrysay, Raquel Cristina Arndt, Lineu Cesar Werneck, Rosana Herminia Scola
Arq Neuropsiquiatr. 2023 Oct; 81(10): 922–933. Published online 2023 Oct 18. doi: 10.1055/s-0043-1772833
PMCID:
PMC10631857
AbstractArticlePDF–2.3M
6.
GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders
Pitcha Chompoopong, Margherita Milone
Genes (Basel) 2023 Feb; 14(2): 372. Published online 2023 Jan 31. doi: 10.3390/genes14020372
PMCID:
PMC9956253
AbstractArticlePDF–10M
7.
A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B
Patrizia Spadafora, Antonio Qualtieri, Francesca Cavalcanti, Gemma Di Palma, Olivier Gallo, Selene De Benedittis, Annamaria Cerantonio, Luigi Citrigno
Int J Mol Sci. 2022 Aug; 23(16): 8932. Published online 2022 Aug 11. doi: 10.3390/ijms23168932
PMCID:
PMC9408934
AbstractArticlePDF–1.7M
8.
Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review
Ivana F. Audhya, Antoinette Cheung, Shelagh M. Szabo, Emma Flint, Conrad C. Weihl, Katherine L. Gooch
J Neuromuscul Dis. 2022; 9(4): 477–492. Prepublished online 2022 May 4. Published online 2022 Jul 1. doi: 10.3233/JND-210771
PMCID:
PMC9398075
AbstractArticlePDF–617K
9.
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy
Jorge Alonso-Pérez, Lidia González-Quereda, Claudio Bruno, Chiara Panicucci, Afagh Alavi, Shahriar Nafissi, Yalda Nilipour, Edmar Zanoteli, Lucas Michielon de Augusto Isihi, Béla Melegh, Kinga Hadzsiev, Nuria Muelas, Juan J Vílchez, Mario Emilio Dourado, Naz Kadem, Gultekin Kutluk, Muhammad Umair, Muhammad Younus, Elena Pegorano, Luca Bello, Thomas O Crawford, Xavier Suárez-Calvet, Ana Töpf, Michela Guglieri, Chiara Marini-Bettolo, Pia Gallano, Volker Straub, Jordi Díaz-Manera
Brain. 2022 Feb; 145(2): 596–606. Published online 2021 Sep 13. doi: 10.1093/brain/awab301
PMCID:
PMC9014751
AbstractArticlePDF–1.0M
10.
Compound heterozygous CAPN3 variants identified in a family with limb-girdle muscular dystrophy recessive 1
Cheng Zhang, Xueping Zheng, Deguo Lu, Lulu Xu, Fengyuan Che, Shiguo Liu
Mol Med Rep. 2021 Jun; 23(6): 480. Published online 2021 Apr 23. doi: 10.3892/mmr.2021.12119
PMCID:
PMC8097764
AbstractArticlePDF–1.7M
11.
Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis
Francesca Magri, Roberta Brusa, Luca Bello, Lorenzo Peverelli, Roberto Del Bo, Alessandra Govoni, Claudia Cinnante, Irene Colombo, Francesco Fortunato, Roberto Tironi, Stefania Corti, Nadia Grimoldi, Monica Sciacco, Nereo Bresolin, Elena Pegoraro, Maurizio Moggio, Giacomo Pietro Comi
Acta Myol. 2020 Jun; 39(2): 67–82. Published online 2020 Jun 1. doi: 10.36185/2532-1900-009
PMCID:
PMC7460730
AbstractArticlePDF–313K
12.
Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy‐dystroglycanopathy
Yi Dai, Shengran Liang, Xue Dong, Yanhuan Zhao, Haitao Ren, Yuzhou Guan, Haifang Yin, Chen Li, Lin Chen, Liying Cui, Santasree Banerjee
J Cell Mol Med. 2019 Feb; 23(2): 811–818. Published online 2018 Nov 18. doi: 10.1111/jcmm.13979
PMCID:
PMC6349151
AbstractArticlePDF–975K
13.
Genetic basis of limb-girdle muscular dystrophies: the 2014 update
VINCENZO NIGRO, MARCO SAVARESE
Acta Myol. 2014 May; 33(1): 1–12.
PMCID:
PMC4021627
AbstractArticlePDF–286K
14.
Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2I
Xiomara Q Rosales, Sean J Moser, Tam Tran, Beth McCarthy, Nicholas Dunn, Philip Habib, Orlando P Simonetti, Jerry R Mendell, Subha V Raman
J Cardiovasc Magn Reson. 2011; 13(1): 39. Published online 2011 Aug 4. doi: 10.1186/1532-429X-13-39
PMCID:
PMC3170213
AbstractArticlePDF–303K
15.
A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies.
E S Moreira, M Vainzof, S K Marie, V Nigro, M Zatz, M R Passos-Bueno
J Med Genet. 1998 Nov; 35(11): 951–953. doi: 10.1136/jmg.35.11.951
PMCID:
PMC1051491
SummaryPage BrowsePDF–629K

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