Research & Literature

The Combined Incremental Prognostic Value of LVEF, Late Gadolinium Enhancement, and Global Circumferential Strain Assessed by CMR.

Mordi I, Bezerra H, Carrick D, Tzemos N

JACC. Cardiovascular imaging 2015; (8(5)):540-549 doi:10.1016/j.jcmg.2015.02.005.

Hypertrophic cardiomyopathy mutations in the calponin-homology domain of ACTN2 affect actin binding and cardiomyocyte Z-disc incorporation.

Haywood NJ, Wolny M, Rogers B, et al.

The Biochemical journal 2016; (473(16)):2485-93 doi:10.1042/BCJ20160421.

Myopathology in congenital myopathies.

Sewry CA, Wallgren-Pettersson C

Neuropathology and applied neurobiology 2017; (43(1)):5-23 doi:10.1111/nan.12369.

α-Actinin/titin interaction: A dynamic and mechanically stable cluster of bonds in the muscle Z-disk.

Grison M, Merkel U, Kostan J, et al.

Proceedings of the National Academy of Sciences of the United States of America 2017; (114(5)):1015-1020 doi:10.1073/pnas.1612681114.

Sarcomeric and nonmuscle α-actinin isoforms exhibit differential dynamics at skeletal muscle Z-lines.

Hsu CP, Moghadaszadeh B, Hartwig JH, Beggs AH

Cytoskeleton (Hoboken, N.J.) 2018; (75(5)):213-228 doi:10.1002/cm.21442.

Risk Stratification of Genetic, Dilated Cardiomyopathies Associated With Neuromuscular Disorders: Role of Cardiac Imaging.

van der Bijl P, Delgado V, Bootsma M, Bax JJ

Circulation 2018; (137(23)):2514-2527 doi:10.1161/CIRCULATIONAHA.117.031110.

Dealing With BRCA1/2 Unclassified Variants in a Cancer Genetics Clinic: Does Cosegregation Analysis Help?

Zuntini R, Ferrari S, Bonora E, et al.

Frontiers in genetics 2018; (9()):378 doi:10.3389/fgene.2018.00378.

Functional significance of channelopathy gene variants in unexplained death.

Gando I, Yang HQ, Coetzee WA

Forensic science, medicine, and pathology 2019; (15(3)):437-444 doi:10.1007/s12024-018-0063-y.

ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).

Lornage X, Romero NB, Grosgogeat CA, et al.

Acta neuropathologica 2019; (137(3)):501-519 doi:10.1007/s00401-019-01963-8.

Three-dimensional structure of the basketweave Z-band in midshipman fish sonic muscle.

Burgoyne T, Heumann JM, Morris EP, et al.

Proceedings of the National Academy of Sciences of the United States of America 2019; (116(31)):15534-15539 doi:10.1073/pnas.1902235116.

Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre.

Bugiardini E, Khan AM, Phadke R, et al.

Neuromuscular disorders : NMD 2019; (29(10)):747-757 doi:10.1016/j.nmd.2019.08.003.

Disease modeling of a mutation in α-actinin 2 guides clinical therapy in hypertrophic cardiomyopathy.

Prondzynski M, Lemoine MD, Zech AT, et al.

EMBO molecular medicine 2019; (11(12)):e11115 doi:10.15252/emmm.201911115.

Exercise Training as Part of Musculoskeletal Management for Congenital Myopathy: Where Are We Now?

Adaikina A, Hofman PL, O'Grady GL, Gusso S

Pediatric neurology 2020; (104()):13-18 doi:10.1016/j.pediatrneurol.2019.10.008.

Cryo-electron tomography of cardiac myofibrils reveals a 3D lattice spring within the Z-discs.

Oda T, Yanagisawa H

Communications biology 2020; (3(1)):585 doi:10.1038/s42003-020-01321-5.

The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.

Wadmore K, Azad AJ, Gehmlich K

International journal of molecular sciences 2021; (22(6)) doi:10.3390/ijms22063058.

A novel frameshift ACTN2 variant causes a rare adult-onset distal myopathy with multi-minicores.

Chen L, Chen DF, Dong HL, et al.

CNS neuroscience & therapeutics 2021; (27(10)):1198-1205 doi:10.1111/cns.13697.

Diagnostic and Prognostic Value of Cardiovascular Magnetic Resonance in Neuromuscular Cardiomyopathies.

Almogheer B, Antonopoulos AS, Azzu A, et al.

Pediatric cardiology 2022; (43(1)):27-38 doi:10.1007/s00246-021-02686-y.

Non-invasive markers for sudden cardiac death risk stratification in dilated cardiomyopathy.

Pooranachandran V, Nicolson W, Vali Z, et al.

Heart (British Cardiac Society) 2022; (108(13)):998-1004 doi:10.1136/heartjnl-2021-319971.

Mono- and Biallelic Protein-Truncating Variants in Alpha-Actinin 2 Cause Cardiomyopathy Through Distinct Mechanisms.

Lindholm ME, Jimenez-Morales D, Zhu H, et al.

Circulation. Genomic and precision medicine 2021; (14(6)):e003419 doi:10.1161/CIRCGEN.121.003419.

Management of Hypertrophic Cardiomyopathy: JACC State-of-the-Art Review.

Maron BJ, Desai MY, Nishimura RA, et al.

Journal of the American College of Cardiology 2022; (79(4)):390-414 doi:10.1016/j.jacc.2021.11.021.

Characteristics and feasibility of ambulatory respiratory assessment of paediatric neuromuscular disease: an observational retrospective study.

Zhang C, Wei CJ, Jin Z, et al.

The International journal of neuroscience 2023; (133(9)):1045-1054 doi:10.1080/00207454.2022.2042691.

ACTN2 Mutant Causes Proteopathy in Human iPSC-Derived Cardiomyocytes.

Zech ATL, Prondzynski M, Singh SR, et al.

Cells 2022; (11(17)) doi:10.3390/cells11172745.

Mutation update for the ACTN2 gene.

Ranta-Aho J, Olive M, Vandroux M, et al.

Human mutation 2022; (43(12)):1745-1756 doi:10.1002/humu.24470.

Long term noninvasive ventilation and continuous positive airway pressure in children with neuromuscular diseases in France.

Allaer L, Khirani S, Griffon L, et al.

Neuromuscular disorders : NMD 2022; (32(11-12)):886-892 doi:10.1016/j.nmd.2022.09.008.

Bone Quality in Patients with a Congenital Myopathy: A Scoping Review.

Bouman K, Dittrich ATM, Groothuis JT, et al.

Journal of neuromuscular diseases 2023; (10(1)):1-13 doi:10.3233/JND-221543.

Cardiomyopathy-associated variants alter the structure and function of the α-actinin-2 actin-binding domain.

Atang AE, Rebbeck RT, Thomas DD, Avery AW

Biochemical and biophysical research communications 2023; (670()):12-18 doi:10.1016/j.bbrc.2023.05.050.

A Diagnostic Challenge in an Adolescent with Collagen VI-Related Myopathy and Emotional Disorder-Case Report.

Oros M, Baranga L, Glangher A, et al.

Journal of personalized medicine 2023; (13(11)) doi:10.3390/jpm13111577.

Respiratory function in LAMA2-related muscular dystrophy and SELENON-related congenital myopathy, a 1.5-year natural history study.

Bouman K, van Doorn JLM, Groothuis JT, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2024; (48()):30-39 doi:10.1016/j.ejpn.2023.11.005.

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.

Donkervoort S, Mohassel P, O'Leary M, et al.

Annals of clinical and translational neurology 2024; (11(3)):629-640 doi:10.1002/acn3.51983.

The Paradigm of Sudden Death Prevention in Hypertrophic Cardiomyopathy.

Maron MS, Rowin EJ, Maron BJ

The American journal of cardiology 2024; (212S()):S64-S76 doi:10.1016/j.amjcard.2023.10.076.

Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.

Ranta-Aho J, Felice KJ, Jonson PH, et al.

Annals of clinical and translational neurology 2024; (11(9)):2392-2405 doi:10.1002/acn3.52154.

Clinical and genetic evaluation of hereditary myopathies in an adult Saudi cohort.

Alhammad RM, Alrehaili ML, Albulaihe HM, et al.

BMC neurology 2024; (24(1)):312 doi:10.1186/s12883-024-03838-2.

Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy.

Iruzubieta P, Verdú-Díaz J, Töpf A, et al.

Journal of neurology 2025; (272(2)):150 doi:10.1007/s00415-025-12893-9.

Cardiac Magnetic Resonance Guidance for the Pathogenetic Definition of Cardiomyopathies.

Paudel B, Pan J, Singulane CC, et al.

Current cardiology reports 2025; (27(1)):85.

Atrial electrical alterations with intact cardiac structure and contractile function in a mouse model of an HCM-linked ACTN2 variant.

Noureddine M, Broadway-Stringer S, O'Shea C, et al.

Journal of molecular and cellular cardiology plus 2025; (12()):100455 doi:10.1016/j.jmccpl.2025.100455.

De Novo ACTN2 Variant in a Chinese Neonate With Left Ventricular Non-Compaction and Metabolic Disturbances: A Rare Case Report.

Huang J, Zhang Z, Yang J

Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc 2026; (31(1)):e70117 doi:10.1111/anec.70117.

Comprehensive biophysical and structural profiling of alpha-actinin-2 variants reveals mechanistic diversity in hypertrophic cardiomyopathy.

Noureddine M, Mikolajek H, Cowieson N, et al.

Nature communications 2026; (17(1)).