Works matching Limb girdle muscular dystrophy

Results: 1162

Compound heterozygous CAPN3 variants identified in a family with limb-girdle muscular dystrophy recessive 1.

Published in:

Molecular Medicine Reports, 2021, v. 23, n. 6, p. N.PAG

By:

Zhang, Cheng;
Zheng, Xueping;
Lu, Deguo;
Xu, Lulu;
Che, Fengyuan;
Liu, Shiguo

Publication type:

Article

Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.

Published in:

2016

By:

Inashkina, Inna;
Jankevics, Eriks;
Stavusis, Janis;
Vasiljeva, Inta;
Viksne, Kristine;
Micule, Ieva;
Strautmanis, Jurgis;
Naudina, Maruta S.;
Cimbalistiene, Loreta;
Kucinskas, Vaidutis;
Krumina, Astrida;
Utkus, Algirdas;
Burnyte, Birute;
Matuleviciene, Ausra;
Lace, Baiba

Publication type:

journal article

Novel mutations in the SGCA gene in unrelated Vietnamese patients with limb-girdle muscular dystrophies disease.

Published in:

Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1248338

By:

Nam Chung Tran;
Nguyen Thi Kim Lien;
Thanh Dat Ta;
Van Hung Nguyen;
Huy Thinh Tran;
Nguyen Van Tung;
Nguyen Thi Xuan;
Nguyen Huy Hoang;
Van Khanh Tran

Publication type:

Article

Identification and functional characterization of a novel heterozygous splice‑site mutation in the calpain 3 gene causes rare autosomal dominant limb‑girdle muscular dystrophy.

Published in:

Experimental & Therapeutic Medicine, 2024, v. 27, n. 3, p. N.PAG, doi. 10.3892/etm.2024.12385

By:

Mao, Bin;
Yang, Jie;
Zhao, Xiaodong;
Jia, Xueling;
Shi, Xin;
Zhao, Lihui;
Banerjee, Santasree;
Zhang, Lili;
Ma, Xiaoling

Publication type:

Article

Limb-girdle muscular dystrophy subtypes: First-reported cohort from northeastern China.

Published in:

Neural Regeneration Research, 2013, v. 8, n. 20, p. 1907, doi. 10.3969/j.issn.1673-5374.2013.20.010

By:

Mahmood, Omar Abdulmonem;
Xinmei Jiang;
Qi Zhang

Publication type:

Article

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

Published in:

2021

By:

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

Publication type:

Correction Notice

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.

Published in:

Brain: A Journal of Neurology, 2013, v. 136, n. 5, p. 1508, doi. 10.1093/brain/awt074

By:

Melià, Maria J.;
Kubota, Akatsuki;
Ortolano, Saida;
Vílchez, Juan J.;
Gámez, Josep;
Tanji, Kurenai;
Bonilla, Eduardo;
Palenzuela, Lluís;
Fernández-Cadenas, Israel;
Přistoupilová, Anna;
García-Arumí, Elena;
Andreu, Antoni L.;
Navarro, Carmen;
Hirano, Michio;
Martí, Ramon

Publication type:

Article

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.

Published in:

Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 269

By:

Cirak, Sebahattin;
Foley, Aileen Reghan;
Herrmann, Ralf;
Willer, Tobias;
Yau, Shu;
Stevens, Elizabeth;
Torelli, Silvia;
Brodd, Lina;
Kamynina, Alisa;
Vondracek, Petr;
Roper, Helen;
Longman, Cheryl;
Korinthenberg, Rudolf;
Marrosu, Gianni;
Nürnberg, Peter;
Michele, Daniel E.;
Plagnol, Vincent;
Hurles, Matt;
Moore, Steven A.;
Sewry, Caroline A.

Publication type:

Article

A prospective study on the immunophenotypic characterization of limb girdle muscular dystrophies 2 in India.

Published in:

Neurology India, 2015, v. 63, n. 4, p. 548, doi. 10.4103/0028-3886.162048

By:

Nalini, Atchayaram;
Polavarapu, Kiran;
Sunitha, Balaraju;
Kulkarni, Sandhya;
Gayathri, Narayanappa;
Bharath, M. M. Srinivas;
Modi, Sailesh;
Preethish-Kumar, Veeramani

Publication type:

Article

Longitudinal functional and imaging outcome measures in FKRP limb-girdle muscular dystrophy.

Published in:

2020

By:

Leung, Doris G.;
Bocchieri, Alex E.;
Ahlawat, Shivani;
Jacobs, Michael A.;
Parekh, Vishwa S.;
Braverman, Vladimir;
Summerton, Katherine;
Mansour, Jennifer;
Bibat, Genila;
Morris, Carl;
Marraffino, Shannon;
Wagner, Kathryn R.

Publication type:

journal article

Two Novel Variants of the CAPN3 Gene in Chinese Patients with Limb-Girdle Muscular Dystrophy Recessive 1.

Published in:

Human Heredity, 2024, v. 89, n. 1, p. 52, doi. 10.1159/000539521

By:

Zhang, Lulu;
Zhang, Yi;
Han, Chunru;
Jiang, Juean;
Jiang, Jianhua;
Cai, Xiuying;
Yu, Liqiang;
Qi, Huan;
Fang, Qi;
Ding, Dongxue

Publication type:

Article

Limb-Girdle Muscular Dystrophies (LGMD): Clinical features, diagnosis and genetic variability through next generation sequencing.

Published in:

Global Medical Genetics, 2025, v. 12, n. 1, p. 1, doi. 10.1016/j.gmg.2024.100035

By:

Mathur, Priyanshu;
Kaur, Ashmeet;
Vijay, Urvashi;
Gupta, Ashok;
Agarwal, Kamlesh;
Agrawal, Lokesh

Publication type:

Article

Machine learning-based radiomics to differentiate immune-mediated necrotizing myopathy from limb-girdle muscular dystrophy R2 using MRI.

Published in:

Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1251025

By:

Ping Wei;
Huahua Zhong;
Qian Xie;
Jin Li;
Sushan Luo;
Xueni Guan;
Zonghui Liang;
Dongyue Yue

Publication type:

Article

Elevated Liver Enzymes Indicating a Diagnosis of Limb-Girdle Muscular Dystrophy.

Published in:

JGIM: Journal of General Internal Medicine, 2014, v. 29, n. 5, p. 813, doi. 10.1007/s11606-014-2766-4

By:

Lash, Tyler;
Kraemer, Ryan

Publication type:

Article

SURPRISING GENOTYPE EXPRESSED AS A COMMON LIMB-GIRDLE MUSCULAR DYSTROPHY.

Published in:

2017

By:

Cozma, Liviu;
Barsevschi, Maria;
Mitu, Cristina;
Bastian, Alexandra;
Popescu, Bogdan Ovidiu

Publication type:

Case Study

The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients.

Published in:

2018

By:

Wang, Liang;
Zhang, Victor Wei;
Li, Shaoyuan;
Li, Huan;
Sun, Yiming;
Li, Jing;
Zhu, Yuling;
He, Ruojie;
Lin, Jinfu;
Zhang, Cheng

Publication type:

journal article

A Straightforward Approach to Analyze Skeletal Muscle MRI in Limb-Girdle Muscular Dystrophy for Differential Diagnosis: A Systematic Review.

Published in:

Muscles (2813-0413), 2023, v. 2, n. 4, p. 374, doi. 10.3390/muscles2040029

By:

Morishima, Ryo;
Schoser, Benedikt

Publication type:

Article

Targeted next‐generation sequencing determined a novel SGCG variant that is associated with limb‐girdle muscular dystrophy type 2C: A case report.

Published in:

2023

By:

Tran, Nam‐Chung;
Nguyen, Tuan Anh;
Ta, Thanh Dat;
Tran, Thinh Huy;
Nguyen, Phuoc‐Dung;
Vu, Chi Dung;
Nguyen, Van‐Hung;
Bui, The‐Hung;
Ta, Thanh Van;
Tran, Van Khanh

Publication type:

Case Study

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

Published in:

Experimental & Therapeutic Medicine, 2021, v. 21, n. 2, p. 1, doi. 10.3892/etm.2020.9536

By:

JIE ZHENG;
XIAOWEI XU;
XINJIE ZHANG;
XUETAO WANG;
JIANBO SHU;
CHUNQUAN CAI

Publication type:

Article

Autosomal recessive limb‐girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.

Published in:

Clinical Genetics, 2019, v. 96, n. 2, p. 126, doi. 10.1111/cge.13544

By:

ten Dam, Leroy;
Frankhuizen, Wendy S.;
Linssen, Wim H.J.P.;
Straathof, Chiara S.;
Niks, Erik H.;
Faber, Karin;
Fock, Annemarie;
Kuks, Jan B.;
Brusse, Esther;
de Coo, René;
Voermans, Nicol;
Verrips, Aad;
Hoogendijk, Jessica E.;
van der Pol, Ludo;
Westra, Dineke;
de Visser, Marianne;
van der Kooi, Anneke J.;
Ginjaar, Ieke

Publication type:

Article

Limb-girdle muscular dystrophy type 2I: two Chinese families and a review in Asian patients.

Published in:

International Journal of Neuroscience, 2018, v. 128, n. 3, p. 199, doi. 10.1080/00207454.2017.1380640

By:

Wang, Dan-Ni;
Wang, Zhi-Qiang;
Chen, Yu-Qing;
Xu, Guo-Rong;
Lin, Min-Ting;
Wang, Ning

Publication type:

Article

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

Published in:

Frontiers in Neuroscience, 2021, v. 14, p. N.PAG, doi. 10.3389/fnins.2021.601757

By:

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

Publication type:

Article

Identification of circulating miRNAs differentially expressed in patients with Limb-girdle, Duchenne or facioscapulohumeral muscular dystrophies.

Published in:

Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02603-3

By:

García-Giménez, José Luis;
García-Trevijano, Elena R.;
Avilés-Alía, Ana I.;
Ibañez-Cabellos, José Santiago;
Bovea-Marco, Miquel;
Bas, Teresa;
Pallardó, Federico V.;
Viña, Juan R.;
Zaragozá, Rosa

Publication type:

Article

Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.

Published in:

BMC Neurology, 2014, v. 14, n. 1, p. 2, doi. 10.1186/s12883-014-0154-7

By:

Stehlíková, Kristýna;
Skálová, Daniela;
Zídková, Jana;
Mrázová, Lenka;
Vondráček, Petr;
Mazanec, Radim;
Voháňka, Stanislav;
Haberlová, Jana;
Hermanová, Markéta;
Zámečník, Josef;
Souček, Ondřej;
OŠlejŠková, Hana;
Dvořáčková, Nina;
Solařová, Pavla;
Fajkusová, Lenka

Publication type:

Article

A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report.

Published in:

BMC Musculoskeletal Disorders, 2024, v. 25, p. 1, doi. 10.1186/s12891-024-07354-9

By:

Hesami, Hamed;
Ghasemi, Serwa;
Houshmand, Golnaz;
Nilipour, Yalda;
Hesami, Mahshid;
Biglari, Alireza;
Nafissi, Shahriar;
Maleki, Majid;
Kalayinia, Samira

Publication type:

Article

Cytoskeletal and extracellular matrix alterations in limb girdle muscular dystrophy 2I muscle fibers.

Published in:

Neurology India, 2012, v. 60, n. 5, p. 510, doi. 10.4103/0028-3886.103200

By:

Sabatelli, Patrizia;
Pellegrini, Camilla;
Faldini, Cesare;
Merlini, Luciano

Publication type:

Article

Electroretinogram abnormalities in FKRP-related limb–girdle muscular dystrophy (LGMDR9).

Published in:

Documenta Ophthalmologica, 2023, v. 146, n. 1, p. 7, doi. 10.1007/s10633-022-09909-4

By:

Hagedorn, Joshua L.;
Dunn, Taylor M.;
Bhattarai, Sajag;
Stephan, Carrie;
Mathews, Katherine D.;
Pfeifer, Wanda;
Drack, Arlene V.

Publication type:

Article

General anaesthesia in two patients with Limb-Girdle muscular dystrophy.

Published in:

Anaesthesiology & Rescue Medicine / Anestezjologia i Ratownictwo, 2013, n. 4, p. 397

By:

Baldeón-Chávez, Elizabeth Jane;
Ortiz-Gómez, José Ramón;
Díez-Sánchez, Nerea;
Cerdán-Rodríguez, Gabriel

Publication type:

Article

Causative variants linked with limb girdle muscular dystrophy in an Iranian population: 6 novel variants.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 2, p. 1, doi. 10.1002/mgg3.2101

By:

Mianesaz, Hamidreza;
Ghalamkari, Safoura;
Salehi, Mansoor;
Behnam, Mahdiyeh;
Hosseinzadeh, Majid;
Basiri, Keivan;
Ghasemi, Majid;
Sedghi, Maryam;
Ansari, Behnaz

Publication type:

Article

Pathogenic CAPN3 Variant Identified in an Iranian Family With Limb-girdle Muscular Dystrophy.

Published in:

Basic & Clinical Neuroscience, 2024, v. 15, n. 6, p. 865, doi. 10.32598/bcn.2024.5978.1

By:

Sakhaei, Amin;
Mohammadi-Asl, Javad

Publication type:

Article

THE IMPORTANT ROLE OF SANGER SEQUENCING IN THE DETECTION OF THE MAGHREBIAN MUTATION C.525DELT IN THE SGCG GENE IN LIMB-GIRDLE MUSCULAR DYSTROPHY.

Published in:

Turkish Journal of Biochemistry / Turk Biyokimya Dergisi, 2023, v. 48, p. 169

By:

Smaili, Fatimazahra;
Zerrouki, Khawla;
Aouni, Fatima Ezzahra;
Ghanam, Ayad;
Babakhouya, Abddeladim;
Tajir, Mariam

Publication type:

Article

A Muscle Biosignature Differentiating Between Limb-Girdle Muscular Dystrophy and Idiopathic Inflammatory Myopathy on Magnetic Resonance Imaging.

Published in:

Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.783095

By:

Hsu, Wen-Chi;
Lin, Yu-Ching;
Chuang, Hai-Hua;
Yeh, Kun-Yun;
Chan, Wing P.;
Ro, Long-Sun

Publication type:

Article

Novel compound heterozygous PLEC mutations lead to early-onset limb-girdle muscular dystrophy 2Q.

Published in:

Molecular Medicine Reports, 2017, v. 15, n. 5, p. 2760, doi. 10.3892/mmr.2017.6309

By:

JINGZI ZHONG;
GANG CHEN;
YIWU DANG;
HAIXIA LIAO;
JIAPENG ZHANG;
DAN LAN

Publication type:

Article

Limb–Girdle Muscular Dystrophies Classification and Therapies.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 14, p. 4769, doi. 10.3390/jcm12144769

By:

Bouchard, Camille;
Tremblay, Jacques P.

Publication type:

Article

The Clinicopathological Distinction between Immune-Mediated Necrotizing Myopathy and Limb–Girdle Muscular Dystrophy R2: Key Points to Prevent Misdiagnosis.

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 21, p. 6566, doi. 10.3390/jcm11216566

By:

Yang, Mengge;
Ji, Suqiong;
Xu, Li;
Zhang, Qing;
Li, Yue;
Gao, Huajie;
Bu, Bitao

Publication type:

Article

Case report: A novel mutation of the CAPN3 gene in a Chinese family with limb-girdle muscular dystrophy type 2A.

Published in:

Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1410727

By:

Wanjun Feng;
Yanyan Cao;
Ruolin Ren;
Xiaohui Yang;
Chunyan Cao;
Hongwei Jiang;
Ganqin Du

Publication type:

Article

TRIM32 biallelic defects cause limb-girdle muscular dystrophy R8: identification of two novel mutations and investigation of genotype–phenotype correlation.

Published in:

Skeletal Muscle, 2023, v. 13, n. 1, p. 1, doi. 10.1186/s13395-023-00319-x

By:

Guan, Yuqing;
Liang, Xiongda;
Li, Wei;
Lin, Wanying;
Liang, Guanxia;
Xie, Hongting;
Hou, Yu;
Hu, Yafang;
Shang, Xuan

Publication type:

Article

Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy.

Published in:

2020

By:

Liang, Wen-Chen;
Jong, Yuh-Jyh;
Wang, Chien-Hua;
Wang, Chen-Hua;
Tian, Xia;
Chen, Wan-Zi;
Kan, Tzu-Min;
Minami, Narihiro;
Nishino, Ichizo;
Wong, Lee-Jun C.

Publication type:

journal article

Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect.

Published in:

2020

By:

Mojbafan, Marzieh;
Bahmani, Reza;
Bagheri, Samira Dabbagh;
Sharifi, Zohreh;
Zeinali, Sirous

Publication type:

journal article

Incidental Severe Fatty Degeneration of the Erector Spinae in a Patient with L5–S1 Disc Extrusion Diagnosed with Limb-Girdle Muscular Dystrophy R2 Dysferin-Related.

Published in:

Diagnostics (2075-4418), 2020, v. 10, n. 8, p. 530, doi. 10.3390/diagnostics10080530

By:

Kim, Du Hwan;
Jang, Dae-Hyun;
Jang, Ja-Hyun

Publication type:

Article

The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb–Girdle Muscular Dystrophy.

Published in:

Cells (2073-4409), 2025, v. 14, n. 6, p. 446, doi. 10.3390/cells14060446

By:

Valls, Andrea;
Ruiz-Roldán, Cristina;
Immanuel, Jenita;
Alonso-Martín, Sonia;
Gallardo, Eduard;
Fernández-Torrón, Roberto;
Bonilla, Mario;
Lersundi, Ana;
Hernández-Laín, Aurelio;
Domínguez-González, Cristina;
Vílchez, Juan Jesús;
Iruzubieta, Pablo;
López de Munain, Adolfo;
Sáenz, Amets

Publication type:

Article

SGCD Homozygous Nonsense Mutation (p.Arg97<sup>∗</sup>) Causing Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) in a Consanguineous Family, a Case Report.

Published in:

Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2018.00727

By:

Younus, Muhammad;
Ahmad, Farooq;
Malik, Erum;
Bilal, Muhammad;
Kausar, Mehran;
Abbas, Safdar;
Shaheen, Shabnam;
Kakar, Mohib Ullah;
Alfadhel, Majid;
Umair, Muhammad

Publication type:

Article

Allosteric Modulation of GSK-3β as a New Therapeutic Approach in Limb Girdle Muscular Dystrophy R1 Calpain 3-Related.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 14, p. 7367, doi. 10.3390/ijms22147367

By:

Rico, Anabel;
Guembelzu, Garazi;
Palomo, Valle;
Martínez, Ana;
Aiastui, Ana;
Casas-Fraile, Leire;
Valls, Andrea;
López de Munain, Adolfo;
Sáenz, Amets

Publication type:

Article

A novel multi‐exon deletion in the dysferlin gene of a limb‐girdle muscular dystrophy type 2B Filipino patient.

Published in:

Neurology & Clinical Neuroscience, 2020, v. 8, n. 6, p. 419, doi. 10.1111/ncn3.12453

By:

Porto, Kristine Joyce L.;
Mitsui, Jun;
Ishiura, Hiroyuki;
Kubota, Akatsuki;
Luspian, Kathleen Jaye L.;
Eduardo, Emmanuel;
Damian, Ludwig;
Toda, Tatsushi;
Tsuji, Shoji

Publication type:

Article

Self-reported physical activity in people with limb-girdle muscular dystrophy and Charcot-Marie-Tooth disease in Norway.

Published in:

2020

By:

Andries, Aristomo;
van Walsem, Marleen R.;
Frich, Jan C.

Publication type:

journal article

Insomnia and sleep-disordered breathing in FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020).

Published in:

Journal of Neurology, 2024, v. 271, n. 1, p. 274, doi. 10.1007/s00415-023-11978-7

By:

Jensen, Synnøve;
Abeler, Karin;
Friborg, Oddgeir;
Rosner, Assami;
Olsborg, Caroline;
Mellgren, Svein Ivar;
Müller, Kai Ivar;
Rosenberger, Andreas Dybesland;
Vold, Monica L.;
Arntzen, Kjell Arne

Publication type:

Article

A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy.

Published in:

Journal of Neurology, 2019, v. 266, n. 7, p. 1649, doi. 10.1007/s00415-019-09307-y

By:

Jokela, Manu;
Lehtinen, Sara;
Palmio, Johanna;
Saukkonen, Anna-Maija;
Huovinen, Sanna;
Vihola, Anna;
Udd, Bjarne

Publication type:

Article

Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy.

Published in:

Journal of Neurology, 2016, v. 263, n. 4, p. 743, doi. 10.1007/s00415-016-8036-0

By:

Kuhn, Marius;
Gläser, Dieter;
Joshi, Pushpa;
Zierz, Stephan;
Wenninger, Stephan;
Schoser, Benedikt;
Deschauer, Marcus

Publication type:

Article

Vitamin D Receptor mRNA Expression From Muscle Tissue is Significantly Different Between Idiopathic Inflammatory Myopathy and Limb-girdle Muscular Dystrophy Type 2B Patients.

Published in:

Journal of Neurological Sciences, 2014, v. 31, n. 2, p. 325

By:

Jingyang WANG;
Juan CHEN;
Jiyan ZHANG;
Chuanqiang PU

Publication type:

Article

AAV-based TCAP delivery rescues mitochondria dislocation in limb-girdle muscular dystrophy R7.

Published in:

Brain: A Journal of Neurology, 2025, v. 148, n. 5, p. 1680, doi. 10.1093/brain/awae351

By:

Lv, Xiaoqing;
Liu, Shuangwu;
Li, Xi;
Lv, He;
Shao, Kai;
Luo, Sushan;
Zhao, Dandan;
Yan, Chuanzhu;
Lin, Pengfei

Publication type:

Article