| 1 |
Lin F , Yang K , Lin X , Jin M , Chen L , Zheng FZ , Qiu LL , Ye ZX , Chen HZ , Lin MT , Wang N , Wang ZQ . Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients. Orphanet J Rare Dis, 2023, 18: 356.
doi: 10.1186/s13023-023-02897-x
|
| 2 |
Banerjee S , Radotra BD , Luthra-Guptasarma M , Goyal MK . Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1. Orphanet J Rare Dis, 2024, 19: 140.
doi: 10.1186/s13023-024-03158-1
|
| 3 |
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 . Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective. J Med Genet, 2021, 58: 729- 736.
doi: 10.1136/jmedgenet-2020-107159
|
| 4 |
Feng W , Cao Y , Ren R , Yang X , Cao C , Jiang H , Du G . Case report: a novel mutation of the CAPN3 gene in a Chinese family with limb-girdle muscular dystrophy type 2A. Front Genet, 2024, 15: 1410727.
doi: 10.3389/fgene.2024.1410727
|
| 5 |
Mao B , Yang J , Zhao X , Jia X , Shi X , Zhao L , Banerjee S , Zhang L , Ma X . Identification and functional characterization of a novel heterozygous splice site mutation in the calpain 3 gene causes rare autosomal dominant limb girdle muscular dystrophy. Exp Ther Med, 2024, 27: 97.
doi: 10.3892/etm.2024.12385
|
| 6 |
Cao X , Zeng L , Lu Z , Fan J , Tan S , Zhang M , Yin Z . A female case report of LGMD2B with compound heterozygous mutations of the DYSF gene and asymptomatic mutation of the X-linked DMD gene. Front Neurol, 2023, 14: 1213090.
doi: 10.3389/fneur.2023.1213090
|
| 7 |
Fanin M , Nascimbeni AC , Fulizio L , Trevisan CP , Meznaric-Petrusa M , Angelini C . Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression. Am J Pathol, 2003, 163: 1929- 1936.
doi: 10.1016/S0002-9440(10)63551-1
|
| 8 |
Bardakov SN , Sorochanu I , Mkrtchyan LA , Slesarenko YS , Tsargush VA , Limaev IS , Isaev AA , Yakovlev IA , Deev RV . Calpainopathy (limb-girdle muscular dystrophy type R1): clinical features, diagnostic approaches, and biotechnological treatment methods. J Neuromuscul Dis, 2025, 12: 594- 618.
doi: 10.1177/22143602251345967
|
| 9 |
Massucco S , Fossa P , Fiorillo C , Faedo E , Gemelli C , Barresi R , Ripolone M , Patrone S , Gaudio A , Mandich P , Gotta F , Baratto S , Traverso M , Pisciotta L , Zaottini F , Camera M , Scarsi E , Grandis M . Case report: a single novel calpain 3 gene variant associated with mild myopathy. Front Genet, 2024, 15: 1437859.
doi: 10.3389/fgene.2024.1437859
|
| 10 |
Macias A , Fichna JP , Topolewska M , Rȩdowicz MJ , Kaminska AM , Kostera-Pruszczyk A . Targeted next-generation sequencing reveals mutations in non-coding regions and potential regulatory sequences of calpain-3 gene in Polish limb-girdle muscular dystrophy patients. Front Neurosci, 2021, 15: 692482.
doi: 10.3389/fnins.2021.692482
|
| 11 |
Chen L , Tang F , Gao H , Zhang X , Li X , Xiao D . CAPN3: a muscle specific calpain with an important role in the pathogenesis of diseases (review). Int J Mol Med, 2021, 48: 203.
doi: 10.3892/ijmm.2021.5036
|
| 12 |
Meinke P , Kerr ARW , Czapiewski R , de Las Heras JI , Dixon CR , Harris E , Kölbel H , Muntoni F , Schara U , Straub V , Schoser B , Wehnert M , Schirmer EC . A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism. EBioMedicine, 2020, 51: 102587.
doi: 10.1016/j.ebiom.2019.11.048
|
| 13 |
Yu M , Zheng Y , Jin S , Gang Q , Wang Q , Yu P , Lv H , Zhang W , Yuan Y , Wang Z . Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing. PLoS One, 2017, 12: e0175343.
doi: 10.1371/journal.pone.0175343
|
| 14 |
de Morrée A , Lutje Hulsik D , Impagliazzo A , van Haagen HH , de Galan P , van Remoortere A , 't Hoen PA , van Ommen GB , Frants RR , van der Maarel SM . Calpain 3 is a rapid-action, unidirectional proteolytic switch central to muscle remodeling. PLoS One, 2010, 5: e11940.
doi: 10.1371/journal.pone.0011940
|
| 15 |
Charlton R , Henderson M , Richards J , Hudson J , Straub V , Bushby K , Barresi R . Immunohistochemical analysis of calpain 3: advantages and limitations in diagnosing LGMD2A. Neuromuscul Disord, 2009, 19: 449- 457.
doi: 10.1016/j.nmd.2009.05.005
|
| 16 |
Oflazer PS , Gundesli H , Zorludemir S , Sabuncu T , Dincer P . Eosinophilic myositis in calpainopathy: could immunosuppression of the eosinophilic myositis alter the early natural course of the dystrophic disease?. Neuromuscul Disord, 2009, 19: 261- 263.
doi: 10.1016/j.nmd.2009.01.010
|
| 17 |
Huang Y , de Morrée A , van Remoortere A , Bushby K , Frants RR , den Dunnen JT , van der Maarel SM . Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle. Hum Mol Genet, 2008, 17: 1855- 1866.
doi: 10.1093/hmg/ddn081
|
| 18 |
Groen EJ , Charlton R , Barresi R , Anderson LV , Eagle M , Hudson J , Koref MS , Straub V , Bushby KM . Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A. Brain, 2007, 130 (Pt 12): 3237- 3249.
|
| 19 |
Richards S , Aziz N , Bale S , Bick D , Das S , Gastier-Foster J , Grody WW , Hegde M , Lyon E , Spector E , Voelkerding K , Rehm HL , ACMG Laboratory Quality Assurance Committee . Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med, 2015, 17: 405- 424.
doi: 10.1038/gim.2015.30
|
| 20 |
Alharbi N , Shosha E , Murad H , Alhomud I , Alshehri A , Almuhaizea M , Cupler E , Al-Hindi H , Monies D , Bohlega S . Clinical and genetic features of Calpainopathies in Saudi Arabia: a descriptive cross-sectional study. Eur Rev Med Pharmacol Sci, 2021, 25: 4941- 4952.
|