| Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1. | Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1.
Banerjee S, Radotra BD, Luthra-Guptasarma M, Goyal MK., Free PMC Article | 04/5/2024 |
| The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3-related muscular dystrophy. | 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. | 03/7/2024 |
| Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene. | Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene.
Tomforde M, Steinbach M, Haack TB, Kuhlenbäumer G., Free PMC Article | 10/5/2023 |
| Calpain-3 Is Not a Sodium Dependent Protease and Simply Requires Calcium for Activation. | Calpain-3 Is Not a Sodium Dependent Protease and Simply Requires Calcium for Activation.
Wette SG, Lamb GD, Murphy RM., Free PMC Article | 06/13/2023 |
| CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related. | CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related.
Mroczek M, Inashkina I, Stavusis J, Zayakin P, Khrunin A, Micule I, Kenina V, Zdanovica A, Zídková J, Fajkusová L, Limborska S, van der Kooi AJ, Brusse E, Leonardis L, Maver A, Pajusalu S, Õunap K, Puusepp S, Dobosz P, Sypniewski M, Burnyte B, Lace B. | 09/17/2022 |
| An 86 amino acids motif in CAPN3 is essential for formation of the nucleolus-localized Def-CAPN3 complex. | An 86 amino acids motif in CAPN3 is essential for formation of the nucleolus-localized Def-CAPN3 complex.
Ding F, Huang D, Wang M, Peng J. | 08/27/2022 |
| A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees. | 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. | 04/16/2022 |
| Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay. | Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay.
Dionnet E, Defour A, Da Silva N, Salvi A, Lévy N, Krahn M, Bartoli M, Puppo F, Gorokhova S. | 04/2/2022 |
| Clinical and genetic features of Calpainopathies in Saudi Arabia - a descriptive cross-sectional study. | Clinical and genetic features of Calpainopathies in Saudi Arabia - a descriptive cross-sectional study.
Alharbi N, Shosha E, Murad H, Alhomud I, Alshehri A, Almuhaizea M, Cupler E, Al-Hindi H, Monies D, Bohlega S. | 03/5/2022 |
| Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective. | 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. | 02/26/2022 |
| Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families. | 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. | 11/27/2021 |
| [Calpainopathies: state of the art and therapeutic perspectives].", trans "Calpainopathies - Etat des lieux et perspectives therapeutiques. | [Calpainopathies: state of the art and therapeutic perspectives].
Malfatti E, Richard I. | 10/30/2021 |
| Novel CAPN3 variant associated with an autosomal dominant calpainopathy. | Novel CAPN3 variant associated with an autosomal dominant calpainopathy.
Cerino M, Campana-Salort E, Salvi A, Cintas P, Renard D, Juntas Morales R, Tard C, Leturcq F, Stojkovic T, Bonello-Palot N, Gorokhova S, Mortreux J, Maues De Paula A, Lévy N, Pouget J, Cossée M, Bartoli M, Krahn M, Attarian S. | 10/30/2021 |
| Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India. | 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. | 10/23/2021 |
| Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels. | Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels.
Casas-Fraile L, Cornelis FM, Costamagna D, Rico A, Duelen R, Sampaolesi MM, López de Munain A, Lories RJ, Sáenz A., Free PMC Article | 07/31/2021 |
| NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay. | NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay.
Mavillard F, Madruga-Garrido M, Rivas E, Servián-Morilla E, Ávila-Polo R, Marcos I, Morón FJ, Paradas C, Cabrera-Serrano M., Free PMC Article | 09/26/2020 |
| Calpain-3 (CAPN3), a 94-kDa member of the calpain protease family, is abundant in skeletal muscle. Mutations in the CAPN3 gene cause limb girdle muscular dystrophy type 2A, indicating that CAPN3 plays important roles in muscle physiology. | A muscle-specific calpain, CAPN3, forms a homotrimer.
Hata S, Doi N, Shinkai-Ouchi F, Ono Y. | 07/18/2020 |
| Almost all Serbian patients with calpainopathy had c.550delA mutation. In most of the patients, disease started in the childhood or early adulthood. The disease affected both shoulder girdle - upper arm and pelvic girdle - thigh muscles with similar frequency, although muscles of lower limbs are more severely impaired. None had cardiomyopathy, 21% mild conduction defects. Respiratory function impaired 21%. | Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia.
Peric S, Stevanovic J, Johnson K, Kosac A, Peric M, Brankovic M, Marjanovic A, Jankovic M, Banko B, Milenkovic S, Durdic M, Bozovic I, Glumac JN, Lavrnic D, Maksimovic R, Milic-Rasic V, Rakocevic-Stojanovic V., Free PMC Article | 04/18/2020 |
| Studies provide evidence for a role of CAPN3 mutations in calcium homeostasis in patients with limb-girdle muscular dystrophy recessive [review] | Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations.
Lasa-Elgarresta J, Mosqueira-Martín L, Naldaiz-Gastesi N, Sáenz A, López de Munain A, Vallejo-Illarramendi A., Free PMC Article | 02/15/2020 |
| Two novel homozygous mutations, c.2242C>G (p.Arg748Gly) and c.291C>A (p.Phe97Leu) were identified in 2 patients with Limb girdle muscular dystrophy type 2A | Divergent Features of Mitochondrial Deficiencies in LGMD2A Associated With Novel Calpain-3 Mutations.
El-Khoury R, Traboulsi S, Hamad T, Lamaa M, Sawaya R, Ahdab-Barmada M. | 11/30/2019 |
| This study provides further evidence for autosomal dominant calpainopathy associated with CAPN3 c.643_663del21. | 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., Free PMC Article | 03/9/2019 |
| We conclude that integrative variants, haplotypes and diplotypes of the CAPN3 rs4344713 and FRMD5 rs524908, as well as DBP and BMI are associated with serum lipid variables in the Jing and Han populations. | Integrative variants, haplotypes and diplotypes of the CAPN3 and FRMD5 genes and several environmental exposures associate with serum lipid variables.
Guo T, Yin RX, Pan L, Yang S, Miao L, Huang F., Free PMC Article | 11/17/2018 |
| This study demonstrates that a cluster of patients with Limb-Girdle Muscular Dystrophy Type 2A in a small Mexican village arises from a novel CAPN3 founder mutation. | 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., Free PMC Article | 08/19/2017 |
| Heterozygosity for c.643_663del21 in CAPN3 results in a myopathy resembling the recessive form. | 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. | 06/10/2017 |
| Unrelated families with limb girdle muscular dystrophy shared common haplotypes with homozygote patterns in two families, and a compound heterozygote pattern in the third family. | Linkage Study Revealed Complex Haplotypes in a Multifamily due to Different Mutations in CAPN3 Gene in an Iranian Ethnic Group.
Mojbafan M, Tonekaboni SH, Abiri M, Kianfar S, Sarhadi A, Nilipour Y, Tavakkoly-Bazzaz J, Zeinali S. | 03/18/2017 |