Research & Literature

Desmin common mutation is associated with multi-systemic disease manifestations and depletion of mitochondria and mitochondrial DNA.

McCormick EM, Kenyon L, Falk MJ

Frontiers in genetics 2015; (6()):199 doi:10.3389/fgene.2015.00199.

New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses.

Maerkens A, Olivé M, Schreiner A, et al.

Acta neuropathologica communications 2016; (4()):8 doi:10.1186/s40478-016-0280-0.

Myofibrillar and distal myopathies.

Palmio J, Udd B

Revue neurologique 2016; (172(10)):587-593 doi:10.1016/j.neurol.2016.07.019.

Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy.

Rudolf G, Suominen T, Penttilä S, et al.

Journal of neuromuscular diseases 2016; (3(2)):275-281 doi:10.3233/JND-150143.

Mechanisms of compensation in the gait of patients with drop foot.

Błażkiewicz M, Wiszomirska I, Kaczmarczyk K, et al.

Clinical biomechanics (Bristol, Avon) 2017; (42()):14-19 doi:10.1016/j.clinbiomech.2016.12.014.

Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features.

Niu Z, Pontifex CS, Berini S, et al.

Frontiers in neurology 2018; (9()):147 doi:10.3389/fneur.2018.00147.

A case report: a heterozygous deletion (2791_2805 del) in exon 18 of the filamin C gene causing filamin C-related myofibrillar myopathies in a Chinese family.

Miao J, Su FF, Liu XM, et al.

BMC neurology 2018; (18(1)):79 doi:10.1186/s12883-018-1078-4.

Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene.

Xie Z, Xiao J, Zheng Y, et al.

BioMed research international 2018; (2018()):3710814 doi:10.1155/2018/3710814.

Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints.

Murphy AP, Morrow J, Dahlqvist JR, et al.

Annals of clinical and translational neurology 2019; (6(6)):1033-1045 doi:10.1002/acn3.774.

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.

A mutation in the filamin c gene causes myofibrillar myopathy with lower motor neuron syndrome: a case report.

Chen J, Wu J, Han C, et al.

BMC neurology 2019; (19(1)):198 doi:10.1186/s12883-019-1410-7.

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.

Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the MYOT Variant c.179C>T.

Finsterer J, Stöllberger C, Hasun M, et al.

Case reports in cardiology 2020; (2020()):5128069 doi:10.1155/2020/5128069.

Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features.

Mroczek M, Durmus H, Töpf A, et al.

Genes 2020; (11(7)) doi:10.3390/genes11070716.

Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring.

Koutsoulidou A, Phylactou LA

Molecular therapy. Methods & clinical development 2020; (18()):230-239 doi:10.1016/j.omtm.2020.05.017.

Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center.

Luo YB, Peng Y, Lu Y, et al.

Frontiers in neurology 2020; (11()):1014 doi:10.3389/fneur.2020.01014.

Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients.

Zaganas I, Mastorodemos V, Spilioti M, et al.

Molecular genetics and metabolism reports 2020; (25()):100682 doi:10.1016/j.ymgmr.2020.100682.

LGMD. Identification, description and classification.

Angelini C

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2020; (39(4)):207-217 doi:10.36185/2532-1900-024.

The p.Ala2430Val mutation in filamin C causes a "hypertrophic myofibrillar cardiomyopathy".

Schänzer A, Schumann E, Zengeler D, et al.

Journal of muscle research and cell motility 2021; (42(2)):381-397 doi:10.1007/s10974-021-09601-1.

Myopathy associated LDB3 mutation causes Z-disc disassembly and protein aggregation through PKCα and TSC2-mTOR downregulation.

Pathak P, Blech-Hermoni Y, Subedi K, et al.

Communications biology 2021; (4(1)):355 doi:10.1038/s42003-021-01864-1.

The molecular basis for sarcomere organization in vertebrate skeletal muscle.

Wang Z, Grange M, Wagner T, et al.

Cell 2021; (184(8)):2135-2150.e13 doi:10.1016/j.cell.2021.02.047.

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.

Molecular basis of F-actin regulation and sarcomere assembly via myotilin.

Kostan J, Pavšič M, Puž V, et al.

PLoS biology 2021; (19(4)):e3001148 doi:10.1371/journal.pbio.3001148.

A Journey with LGMD: From Protein Abnormalities to Patient Impact.

Georganopoulou DG, Moisiadis VG, Malik FA, et al.

The protein journal 2021; (40(4)):466-488 doi:10.1007/s10930-021-10006-9.

Integrated proteomic and transcriptomic profiling identifies aberrant gene and protein expression in the sarcomere, mitochondrial complex I, and the extracellular matrix in Warmblood horses with myofibrillar myopathy.

Williams ZJ, Velez-Irizarry D, Gardner K, Valberg SJ

BMC genomics 2021; (22(1)):438 doi:10.1186/s12864-021-07758-0.

[Sleep-related breathing disorders in children and teenagers: diagnosis, consequences and comorbidities].

Coutier L, Franco P

L' Orthodontie francaise 2019; (90(3-4)):273-287 doi:10.1051/orthodfr/2019034.

Numb and Numblike regulate sarcomere assembly and maintenance.

Wang B, Yang M, Li S

The Journal of clinical investigation 2022; (132(3)).

Novel compound heterozygous mutations in the TTN gene: elongation and truncation variants causing limb-girdle muscular dystrophy type 2J in a Han Chinese family.

Wang G, Lv X, Xu L, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022; (43(5)):3427-3433 doi:10.1007/s10072-022-05979-z.

2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders.

Groh WJ, Bhakta D, Tomaselli GF, et al.

Heart rhythm 2022; (19(10)):e61-e120 doi:10.1016/j.hrthm.2022.04.022.

A novel nonsense mutation in the dimerization domain of FLNC causing mild myofibrillar myopathy.

Park YE, Kim DS, Shin JH

Clinical neurology and neurosurgery 2022; (221()):107386 doi:10.1016/j.clineuro.2022.107386.

Silencing MYOT Expression May Inhibit Autophagy in Human Skeletal Muscle Cells.

Lin ZJ, Xu JM, Ji HY, et al.

Disease markers 2023; (2023()):3350685 doi:10.1155/2023/3350685.

Human Mutated MYOT and CRYAB Genes Cause a Myopathic Phenotype in Zebrafish.

Cannone E, Guglielmi V, Marchetto G, et al.

International journal of molecular sciences 2023; (24(14)) doi:10.3390/ijms241411483.

A novel in-frame deletion in MYOT causes an early adult onset distal myopathy.

Guglielmi V, Pancheri E, Cannone E, et al.

Clinical genetics 2023; (104(6)):705-710 doi:10.1111/cge.14413.

Dysferlinopathy in Tunisia: clinical spectrum, genetic background and prognostic profile.

Belhassen I, Laroussi S, Sakka S, et al.

Neuromuscular disorders : NMD 2023; (33(10)):718-727 doi:10.1016/j.nmd.2023.08.007.

Ankle dorsiflexion assistance of patients with foot drop using a powered ankle-foot orthosis to improve the gait asymmetry.

Shin W, Nam D, Ahn B, et al.

Journal of neuroengineering and rehabilitation 2023; (20(1)):140 doi:10.1186/s12984-023-01261-1.

Patterns of Clinical Progression Among Patients With Autosomal Recessive Limb-Girdle Muscular Dystrophy: A Systematic Review.

Cheung A, Audhya IF, Szabo SM, et al.

Journal of clinical neuromuscular disease 2023; (25(2)):65-80 doi:10.1097/CND.0000000000000461.

Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb-girdle muscular dystrophy.

Chen YL, Wu WB, Wang P, et al.

Physiological reports 2023; (11(24)):e15887 doi:10.14814/phy2.15887.

Functional evaluation of a novel fibreglass-reinforced polyamide custom dynamic AFO for foot drop patients: A pilot study.

Caravaggi P, Rogati G, Zamagni L, et al.

Gait & posture 2024; (109()):41-48 doi:10.1016/j.gaitpost.2024.01.017.

Generation of human induced pluripotent stem cell lines from five patients with Myofibrillar myopathy carrying different heterozygous mutations in the DES gene.

Joanne P, Hovhannisyan Y, Simon A, et al.

Stem cell research 2024; (76()):103338 doi:10.1016/j.scr.2024.103338.

Is Cardiac Transplantation Still a Contraindication in Patients with Muscular Dystrophy-Related End-Stage Dilated Cardiomyopathy? A Systematic Review.

Politano L

International journal of molecular sciences 2024; (25(10)) doi:10.3390/ijms25105289.

Filamin protects myofibrils from contractile damage through changes in its mechanosensory region.

Fisher LAB, Carriquí-Madroñal B, Mulder T, et al.

PLoS genetics 2024; (20(6)):e1011101 doi:10.1371/journal.pgen.1011101.

Classification of Muscular Dystrophies from MR Images Improves Using the Swin Transformer Deep Learning Model.

Mastropietro A, Casali N, Taccogna MG, et al.

Bioengineering (Basel, Switzerland) 2024; (11(6)) doi:10.3390/bioengineering11060580.

Common and Key Differential Pathogenic Pathways in Desminopathy and Titinopathy.

Li Q, Xu L, Duan H, et al.

International journal of medical sciences 2024; (21(11)):2040-2051 doi:10.7150/ijms.97797.

The NewGait Rehabilitative Device Corrects Gait Deviations in Individuals With Foot Drop.

Ustinova KI, Langenderfer JE

Rehabilitation research and practice 2024; (2024()):2751643 doi:10.1155/2024/2751643.

[Pediatric pneumological aspects in the care of children with neuromuscular diseases with focus on Duchenne muscular dystrophy].

Fuchs H, Gunst L, Wendt A, et al.

Klinische Padiatrie 2025; (237(2)):59-65 doi:10.1055/a-2464-6210.

Myotilin gene duplication causing late-onset myotilinopathy.

Spinazzi M, Savarese M, Letournel F, et al.

European journal of neurology 2025; (32(1)):e70029 doi:10.1111/ene.70029.

Myofibrillar Myopathy.

Valberg SJ, Williams ZJ

The Veterinary clinics of North America. Equine practice 2025; (41(1)):139-150 doi:10.1016/j.cveq.2024.11.005.

New genotype-phenotype correlations and transcriptomic findings in limb-girdle muscular dystrophy R9.

Yuan Q, Xie Z, Lu Y, et al.

Journal of neurology 2025; (272(8)):516 doi:10.1007/s00415-025-13252-4.

Effects of proprioceptive neuromuscular facilitation therapy combined with orthotic insole intervention on lower limb function improvement in children with foot drop and inversion deformity.

Cheng H, Chou X, Hou X, et al.

Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association 2025; doi:10.1016/j.jos.2025.06.012.

Natural History and Phenotypic Spectrum of Myofibrillar Myopathies and Myopathies Associated With MFM-Related Genes.

Wannarong T, Milone M, Selcen D, et al.

Neurology 2025; (105(10)):e214255 doi:10.1212/WNL.0000000000214255.