Research & Literature

Evaluation of heart involvement in calpainopathy (LGMD2A) using cardiovascular magnetic resonance.

Quick S, Schaefer J, Waessnig N, et al.

Muscle & nerve 2015; (52(4)):661-3 doi:10.1002/mus.24717.

Muscle exercise in limb girdle muscular dystrophies: pitfall and advantages.

Siciliano G, Simoncini C, Giannotti S, et al.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2015; (34(1)):3-8.

Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations.

Park HJ, Jang H, Lee JH, et al.

Yonsei medical journal 2016; (57(1)):173-9 doi:10.3349/ymj.2016.57.1.173.

Limb-girdle muscular dystrophy type 2A in Brazilian children.

Albuquerque MA, Abath Neto O, Silva FM, et al.

Arquivos de neuro-psiquiatria 2015; (73(12)):993-7.

Failure to up-regulate transcription of genes necessary for muscle adaptation underlies limb girdle muscular dystrophy 2A (calpainopathy).

Kramerova I, Ermolova N, Eskin A, et al.

Human molecular genetics 2016; (25(11)):2194-2207 doi:10.1093/hmg/ddw086.

Natural history of LGMD2A for delineating outcome measures in clinical trials.

Richard I, Hogrel JY, Stockholm D, et al.

Annals of clinical and translational neurology 2016; (3(4)):248-65 doi:10.1002/acn3.287.

Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A.

Mori-Yoshimura M, Segawa K, Minami N, et al.

Muscle & nerve 2017; (55(4)):465-469 doi:10.1002/mus.25369.

Dystrophinopathies and Limb-Girdle Muscular Dystrophies.

Domingos J, Sarkozy A, Scoto M, Muntoni F

Neuropediatrics 2017; (48(4)):262-272 doi:10.1055/s-0037-1601860.

[Update on the respiratory management of patients with chronic neuromuscular disease].

Priou P, Trzepizur W, Meslier N, Gagnadoux F

Revue de pneumologie clinique 2017; (73(6)):316-322 doi:10.1016/j.pneumo.2017.10.001.

Diagnostic and clinical significance of the titin fragment in urine of Duchenne muscular dystrophy patients.

Awano H, Matsumoto M, Nagai M, et al.

Clinica chimica acta; international journal of clinical chemistry 2018; (476()):111-116 doi:10.1016/j.cca.2017.11.024.

A novel CAPN3 mutation in late-onset limb-girdle muscular dystrophy with early respiratory insufficiency.

Martinez-Thompson JM, Moore SA, Liewluck T

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2018; (53()):229-231 doi:10.1016/j.jocn.2018.04.025.

Fatty infiltration evaluation and selective pattern characterization of lower limbs in limb-girdle muscular dystrophy type 2A by muscle magnetic resonance imaging.

Feng X, Luo S, Li J, et al.

Muscle & nerve 2018; (58(4)):536-541 doi:10.1002/mus.26169.

229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017.

Straub V, Murphy A, Udd B,

Neuromuscular disorders : NMD 2018; (28(8)):702-710 doi:10.1016/j.nmd.2018.05.007.

Divergent Features of Mitochondrial Deficiencies in LGMD2A Associated With Novel Calpain-3 Mutations.

El-Khoury R, Traboulsi S, Hamad T, et al.

Journal of neuropathology and experimental neurology 2019; (78(1)):88-98 doi:10.1093/jnen/nly113.

Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report.

Strafella C, Campoli G, Galota RM, et al.

Frontiers in neurology 2019; (10()):619 doi:10.3389/fneur.2019.00619.

Novel Missense CAPN3 Mutation Responsible for Adult-Onset Limb Girdle Muscular Dystrophy with Calves Hypertrophy.

Rekik S, Sakka S, Ben Romdhan S, et al.

Journal of molecular neuroscience : MN 2019; (69(4)):563-569 doi:10.1007/s12031-019-01383-z.

European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).

Barp A, Laforet P, Bello L, et al.

Journal of neurology 2020; (267(1)):45-56 doi:10.1007/s00415-019-09539-y.

Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complex.

Xie Z, Xie Z, Yu M, et al.

Orphanet journal of rare diseases 2019; (14(1)):250 doi:10.1186/s13023-019-1242-y.

Novel CAPN3 variant associated with an autosomal dominant calpainopathy.

Cerino M, Campana-Salort E, Salvi A, et al.

Neuropathology and applied neurobiology 2020; (46(6)):564-578 doi:10.1111/nan.12624.

Limb Girdle Muscular Dystrophies.

Bockhorst J, Wicklund M

Neurologic clinics 2020; (38(3)):493-504 doi:10.1016/j.ncl.2020.03.009.

Mitochondrial dysfunction and consequences in calpain-3-deficient muscle.

Jahnke VE, Peterson JM, Van Der Meulen JH, et al.

Skeletal muscle 2020; (10(1)):37 doi:10.1186/s13395-020-00254-1.

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, et al.

Journal of neuromuscular diseases 2021; (8(1)):125-136 doi:10.3233/JND-200547.

[Calpainopathies: state of the art and therapeutic perspectives].

Malfatti E, Richard I

Medecine sciences : M/S 2020; (36 Hors série n° 2()):17-21 doi:10.1051/medsci/2020244.

Successful bilevel positive airway pressure therapy in a patient with amyotrophic lateral sclerosis after emergency laparotomy: A case report.

Koyama Y, Tsuzaki K, Shimizu H, et al.

Saudi journal of anaesthesia 2020; (14(4)):538-540 doi:10.4103/sja.SJA_375_20.

Psychological parameters impact health-related quality of life in mental and physical domains in adults with muscular dystrophy.

O'Dowd DN, Bostock EL, Smith D, et al.

Neuromuscular disorders : NMD 2021; (31(4)):328-335 doi:10.1016/j.nmd.2021.01.007.

Urinary N-terminal fragment of titin: A surrogate marker of serum creatine kinase activity after exercise-induced severe muscle damage.

Tanabe Y, Shimizu K, Sagayama H, et al.

Journal of sports sciences 2021; (39(13)):1437-1444 doi:10.1080/02640414.2021.1876329.

Late-onset camptocormia caused by a heterozygous in-frame CAPN3 deletion.

Spinazzi M, Poupiot J, Cassereau J, et al.

Neuromuscular disorders : NMD 2021; (31(5)):450-455 doi:10.1016/j.nmd.2021.02.012.

Over three decades of natural history of limb girdle muscular dystrophy type R1/2A and R2/2B: Mathematical modelling of a multifactorial study.

LoMauro A, Gandossini S, Russo A, et al.

Neuromuscular disorders : NMD 2021; (31(6)):489-497 doi:10.1016/j.nmd.2021.02.018.

Regional variation of thigh muscle fat infiltration in patients with neuromuscular diseases compared to healthy controls.

Greve T, Burian E, Zoffl A, et al.

Quantitative imaging in medicine and surgery 2021; (11(6)):2610-2621 doi:10.21037/qims-20-1098.

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

Rico A, Guembelzu G, Palomo V, et al.

International journal of molecular sciences 2021; (22(14)) doi:10.3390/ijms22147367.

Systemic delivery of AAVrh74.tMCK.hCAPN3 rescues the phenotype in a mouse model for LGMD2A/R1.

Sahenk Z, Ozes B, Murrey D, et al.

Molecular therapy. Methods & clinical development 2021; (22()):401-414 doi:10.1016/j.omtm.2021.06.010.

Experiences in the molecular genetic and histopathological evaluation of calpainopathies.

Ozyilmaz B, Kirbiyik O, Ozdemir TR, et al.

Neurogenetics 2022; (23(2)):103-114 doi:10.1007/s10048-022-00687-4.

Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India.

Ganaraja VH, Polavarapu K, Bardhan M, et al.

Global medical genetics 2022; (9(1)):34-41 doi:10.1055/s-0041-1736567.

Calpainopathy (Leyden-Mobius Limb-Girdle Muscular Dystrophy Type 2A Phenotype) and Dysferlinopathy (Miyoshi Distal Myopathy Limb-Girdle Muscular Dystrophy Type 2B Phenotype) of Preadolescent Onset: Case Reports of Two Male Filipinos.

Quilacio JMS, Rosales RL, Ampil ER

Cureus 2022; (14(1)):e21353 doi:10.7759/cureus.21353.

Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis.

Domínguez-González C, Fernández-Torrón R, Moore U, et al.

Journal of neurology 2022; (269(7)):3550-3562 doi:10.1007/s00415-021-10957-0.

Targeting the Ubiquitin-Proteasome System in Limb-Girdle Muscular Dystrophy With CAPN3 Mutations.

Lasa-Elgarresta J, Mosqueira-Martín L, González-Imaz K, et al.

Frontiers in cell and developmental biology 2022; (10()):822563 doi:10.3389/fcell.2022.822563.

Current and Future Therapeutic Strategies for Limb Girdle Muscular Dystrophy Type R1: Clinical and Experimental Approaches.

Şahin İO, Özkul Y, Dündar M

Pathophysiology : the official journal of the International Society for Pathophysiology 2021; (28(2)):238-249 doi:10.3390/pathophysiology28020016.

Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1).

Gangfuß A, Hentschel A, Heil L, et al.

Molecular genetics and metabolism 2022; (136(3)):226-237 doi:10.1016/j.ymgme.2022.05.005.

Eosinophilic myositis: could it be an adult-onset dystrophy?

Reardon K, McKelvie P

Practical neurology 2022; doi:10.1136/pn-2022-003448.

Whole-Body MRI in Limb Girdle Muscular Dystrophy Type R1/2A: Correlation With Clinical Scores.

Aivazoglou LU, Guimarães JB, Costa MAF, et al.

Muscle & nerve 2022; (66(4)):471-478 doi:10.1002/mus.27686.

Validation of the North Star Assessment for Limb-Girdle Type Muscular Dystrophies.

James MK, Alfano LN, Muni-Lofra R, et al.

Physical therapy 2022; (102(10)) doi:10.1093/ptj/pzac113.

A rare case of late-onset limb-girdle muscular dystrophy: Calpainopathy.

Painkra B, Mallick R, Das S, et al.

Aging medicine (Milton (N.S.W)) 2022; (5(3)):237-240 doi:10.1002/agm2.12219.

Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020).

Jensen SM, Müller KI, Mellgren SI, et al.

Neuromuscular disorders : NMD 2023; (33(2)):119-132 doi:10.1016/j.nmd.2022.11.005.

Human calpain-3 and its structural plasticity: dissociation of a homohexamer into dimers on binding titin.

Ye Q, Henrickson A, Demeler B, et al.

bioRxiv : the preprint server for biology 2024; doi:10.1101/2024.02.28.582628.

Quantitative muscle magnetic resonance imaging in limb-girdle muscular dystrophy type R1 (LGMDR1): A prospective longitudinal cohort study.

Forsting J, Wächter M, Froeling M, et al.

NMR in biomedicine 2024; (37(10)):e5172 doi:10.1002/nbm.5172.

A retrospective study on the clinical and molecular outcomes of calpainopathy in a Turkish patient cohort.

Şahin İO, Karataş E, Demir M, et al.

Turkish journal of medical sciences 2024; (54(1)):86-98 doi:10.55730/1300-0144.5769.

Unveiling the Respiratory Muscle Strength in Duchenne Muscular Dystrophy: The Impact of Nutrition and Thoracic Deformities, Beyond Spirometry.

Yuksel Kalyoncu M, Gokdemir Y, Yilmaz Yegit C, et al.

Children (Basel, Switzerland) 2024; (11(8)) doi:10.3390/children11080994.

Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.

Mohan S, McNulty S, Thaxton C, et al.

Annals of clinical and translational neurology 2024; (11(9)):2268-2276 doi:10.1002/acn3.52127.

Limb-girdle muscular dystrophy in pregnancy: a narrative review.

Ahmed HS

Archives of gynecology and obstetrics 2024; (310(5)):2373-2386 doi:10.1007/s00404-024-07738-1.

Capn3b-deficient zebrafish model reveals a key role of autoimmune response in LGMDR1.

Chen Y, Huang D, Xie A, et al.

Journal of genetics and genomics = Yi chuan xue bao 2024; (51(12)):1375-1388 doi:10.1016/j.jgg.2024.09.011.

Human calpain-3 and its structural plasticity: Dissociation of a homohexamer into dimers on binding titin.

Ye Q, Henrickson A, Demeler B, et al.

The Journal of biological chemistry 2025; (301(2)):108133 doi:10.1016/j.jbc.2024.108133.

Pulmonary Dysfunction in Children with Dystrophinopathy: A Cross-Sectional Study.

Meena AK, Kamila G, Anand V, et al.

Indian journal of pediatrics 2025; (92(12)):1283-1288 doi:10.1007/s12098-024-05368-8.

Titin fragment is a sensitive biomarker in Duchenne muscular dystrophy model mice carrying full-length human dystrophin gene on human artificial chromosome.

Hiramuki Y, Hosokawa M, Osawa K, et al.

Scientific reports 2025; (15(1)):1778 doi:10.1038/s41598-025-85369-5.

Serum creatine kinase: requesting and interpreting results.

Walters J, Gailani G

Practical neurology 2025; (25(4)):323-329 doi:10.1136/pn-2024-004422.

Variants in CAPN3 Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy Combined With Calpain-3 Deficiency.

Krag T, Nasho E, Brady L, et al.

Human mutation 2025; (2025()):9301465 doi:10.1155/humu/9301465.

Calpainopathy (limb-girdle muscular dystrophy type R1): clinical features, diagnostic approaches, and biotechnological treatment methods.

Bardakov SN, Sorochanu I, Mkrtchyan LA, et al.

Journal of neuromuscular diseases 2025; (12(5)):594-618 doi:10.1177/22143602251345967.

Trigger-Free Neuraxial Anaesthesia for Emergency Evacuation of Retained Products of Conception in Limb-Girdle Muscular Dystrophy: A Case Report and Literature Review.

AlAamer R, Alanzi A, Alatefi D, Alselaiti AA

Cureus 2025; (17(10)):e95759 doi:10.7759/cureus.95759.