551 related articles for article (PubMed ID: 33899113)
1. Compound heterozygous
Zhang C; Zheng X; Lu D; Xu L; Che F; Liu S
Mol Med Rep; 2021 Jun; 23(6):. PubMed ID: 33899113
[TBL] [Abstract][Full Text] [Related]
2. Compound heterozygous DYSF variants causing limb-girdle muscular dystrophy type 2B in a Chinese family.
Li L; Jing Z; Cheng L; Liu W; Wang H; Xu Y; Zheng X; Yu X; Liu S
J Gene Med; 2020 Nov; 22(11):e3272. PubMed ID: 32889728
[TBL] [Abstract][Full Text] [Related]
3. A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.
Vissing J; Barresi R; Witting N; Van Ghelue M; Gammelgaard L; Bindoff LA; Straub V; Lochmüller H; Hudson J; Wahl CM; Arnardottir S; Dahlbom K; Jonsrud C; Duno M
Brain; 2016 Aug; 139(Pt 8):2154-63. PubMed ID: 27259757
[TBL] [Abstract][Full Text] [Related]
4. Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India.
Pathak P; Sharma MC; Jha P; Sarkar C; Faruq M; Jha P; Suri V; Bhatia R; Singh S; Gulati S; Husain M
J Neuromuscul Dis; 2021; 8(1):125-136. PubMed ID: 33337384
[TBL] [Abstract][Full Text] [Related]
5. Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report.
Siavrienė E; Petraitytė G; Burnytė B; Morkūnienė A; Mikštienė V; Rančelis T; Utkus A; Kučinskas V; Preikšaitienė E
BMC Musculoskelet Disord; 2021 Dec; 22(1):1020. PubMed ID: 34863162
[TBL] [Abstract][Full Text] [Related]
6. Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families.
González-Mera L; Ravenscroft G; Cabrera-Serrano M; Ermolova N; Domínguez-González C; Arteche-López A; Soltanzadeh P; Evesson F; Navas C; Mavillard F; Clayton J; Rodrigo P; Servián-Morilla E; Cooper ST; Waddell L; Reardon K; Corbett A; Hernandez-Laín A; Sanchez A; Esteban Perez J; Paradas-Lopez C; Rivas-Infante E; Spencer M; Laing N; Olivé M
Neuropathol Appl Neurobiol; 2021 Feb; 47(2):283-296. PubMed ID: 32896923
[TBL] [Abstract][Full Text] [Related]
7. Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene.
Fadaee M; Kariminejad A; Fattahi Z; Nafissi S; Godarzi HR; Beheshtian M; Vazehan R; Akbari MR; Kahrizi K; Najmabadi H
Neuromuscul Disord; 2016; 26(4-5):277-82. PubMed ID: 27020652
[TBL] [Abstract][Full Text] [Related]
8. Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective.
Zhong H; Zheng Y; Zhao Z; Lin P; Xi J; Zhu W; Lin J; Lu J; Yu M; Zhang W; Lv H; Yan C; Hu J; Wang Z; Lu J; Zhao C; Yuan Y; Luo S
J Med Genet; 2021 Nov; 58(11):729-736. PubMed ID: 32994280
[TBL] [Abstract][Full Text] [Related]
9. Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with
Lasa-Elgarresta J; Mosqueira-Martín L; Naldaiz-Gastesi N; Sáenz A; López de Munain A; Vallejo-Illarramendi A
Int J Mol Sci; 2019 Sep; 20(18):. PubMed ID: 31540302
[TBL] [Abstract][Full Text] [Related]
10. Variants of CAPN3 cause limb-girdle muscular dystrophy type 2A in two Chinese families.
Zheng J; Xu X; Zhang X; Wang X; Shu J; Cai C
Exp Ther Med; 2021 Feb; 21(2):104. PubMed ID: 33335567
[TBL] [Abstract][Full Text] [Related]
11. Missense mutation of c.635 T > C in CAPN3 impairs muscle injury repair in a Limb-Girdel Muscular Dystropy Model.
Ma HS; Gong XL; Li WX; Cai Q; Chen YW; Guo XB; Ren ZR; Zeng F; Yan JB
Clin Genet; 2023 Jun; 103(6):663-671. PubMed ID: 36999564
[TBL] [Abstract][Full Text] [Related]
12. Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.
Inashkina I; Jankevics E; Stavusis J; Vasiljeva I; Viksne K; Micule I; Strautmanis J; Naudina MS; Cimbalistiene L; Kucinskas V; Krumina A; Utkus A; Burnyte B; Matuleviciene A; Lace B
BMC Musculoskelet Disord; 2016 May; 17():200. PubMed ID: 27142102
[TBL] [Abstract][Full Text] [Related]
13. The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3-related muscular dystrophy.
Valls A; Gutiérrez-Gutiérrez G; Martínez A; Ruiz-Roldán C; Camaño P; López de Munain A; Sáenz A
Muscle Nerve; 2024 Apr; 69(4):472-476. PubMed ID: 38299438
[TBL] [Abstract][Full Text] [Related]
14. A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees.
Khan K; Mehmood S; Liu C; Siddiqui M; Ahmad A; Faiz BY; Chioza BA; Baple EA; Ullah MI; Akram Z; Satti HS; Khan R; Harlalka GV; Jameel M; Akram T; Baig SM; Crosby AH; Hassan MJ; Zhang F; Davis EE; Khan TN
Am J Med Genet A; 2022 Feb; 188(2):498-508. PubMed ID: 34697879
[TBL] [Abstract][Full Text] [Related]
15. Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1.
Banerjee S; Radotra BD; Luthra-Guptasarma M; Goyal MK
Orphanet J Rare Dis; 2024 Apr; 19(1):140. PubMed ID: 38561828
[TBL] [Abstract][Full Text] [Related]
16. Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21.
Martinez-Thompson JM; Niu Z; Tracy JA; Moore SA; Swenson A; Wieben ED; Milone M
Muscle Nerve; 2018 Apr; 57(4):679-683. PubMed ID: 28881388
[TBL] [Abstract][Full Text] [Related]
17. Novel Homozygous Missense Mutation in CAPN3 Gene Detected in a Saudi Arabian Family With Limb-Girdle Muscular Dystrophy Type 2A.
Al-Harbi TM; Abdulmanaʼ SO; Dridi W
J Clin Neuromuscul Dis; 2016 Dec; 18(2):89-91. PubMed ID: 27861222
[TBL] [Abstract][Full Text] [Related]
18. Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation.
Pantoja-Melendez CA; Miranda-Duarte A; Roque-Ramirez B; Zenteno JC
PLoS One; 2017; 12(1):e0170280. PubMed ID: 28103310
[TBL] [Abstract][Full Text] [Related]
19. Limb-girdle muscular dystrophy type 2a with mutation in CAPN3: the first report in Taiwan.
Wang CH; Liang WC; Minami N; Nishino I; Jong YJ
Pediatr Neonatol; 2015 Feb; 56(1):62-5. PubMed ID: 23597518
[TBL] [Abstract][Full Text] [Related]
20. Limb-girdle muscular dystrophy type 2A resulting from homozygous G2338C transversion mutation in the calpain-3 gene.
Peddareddygari LR; Surgan V; Grewal RP
J Clin Neuromuscul Dis; 2010 Dec; 12(2):62-5. PubMed ID: 21386772
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]