Research & Literature

Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience.

Seong MW, Cho A, Park HW, et al.

Clinical genetics 2016; (89(4)):484-488 doi:10.1111/cge.12621.

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.

Limb-girdle muscular dystrophy in the Agarwals: Utility of founder mutations in CAPN3 gene.

Khadilkar SV, Chaudhari CR, Dastur RS, et al.

Annals of Indian Academy of Neurology 2016; (19(1)):108-11 doi:10.4103/0972-2327.175435.

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.

Dominant LGMD2A: alternative diagnosis or hidden digenism?

Sáenz A, López de Munain A

Brain : a journal of neurology 2017; (140(2)):e7 doi:10.1093/brain/aww281.

LGMD2D syndrome: the importance of clinical and molecular genetics in patient and family management. Case Report.

Al-Harbi KM, Abdallah AM

Neuro endocrinology letters 2016; (37(4)):277-281.

Central core myopathy with autophagy.

Cotta A, Paim JF, Pavanello RCM, et al.

Muscle & nerve 2017; (56(2)):E8-E9 doi:10.1002/mus.25594.

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.

Quality of life in adult patients with limb-girdle muscular dystrophies.

Peric M, Peric S, Stevanovic J, et al.

Acta neurologica Belgica 2018; (118(2)):243-250 doi:10.1007/s13760-017-0857-9.

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.

Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene.

Sivitskaya LN, Danilenko NG, Vaikhanskaya TG, et al.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2017; (36(4)):207-212.

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.

Limb-girdle muscular dystrophy: A perspective from adult patients on what matters most.

Hunter M, Heatwole C, Wicklund M, et al.

Muscle & nerve 2019; (60(4)):419-424 doi:10.1002/mus.26636.

Very late-onset limb-girdle muscular dystrophy type 2D: A milder form with a normal muscle biopsy.

Oliveira Santos M, Coelho P, Roque R, Conceição I

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2020; (72()):471-473 doi:10.1016/j.jocn.2019.12.003.

Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.

Murphy LB, Schreiber-Katz O, Rafferty K, et al.

Annals of clinical and translational neurology 2020; (7(5)):757-766 doi:10.1002/acn3.51042.

Genetically confirmed limb-girdle muscular dystrophy type 2B with DYSF mutation using gene panel sequencing: A case report.

Lee SJ, Choi E, Shin S, Park J

Medicine 2020; (99(28)):e20810 doi:10.1097/MD.0000000000020810.

Limb Girdle Muscular Dystrophies.

Bockhorst J, Wicklund M

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

Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related.

Libell EM, Richardson JA, Lutz KL, et al.

Muscle & nerve 2020; (62(5)):626-632 doi:10.1002/mus.27052.

[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.

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

Fernández-Eulate G, Leturcq F, Laforêt P, et al.

Medecine sciences : M/S 2020; (36 Hors série n° 2()):22-27 doi:10.1051/medsci/2020243.

Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale.

Jacobs MB, James MK, Lowes LP, et al.

Annals of neurology 2021; (89(5)):967-978 doi:10.1002/ana.26044.

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.

Anti-AAV Antibodies in AAV Gene Therapy: Current Challenges and Possible Solutions.

Weber T

Frontiers in immunology 2021; (12()):658399 doi:10.3389/fimmu.2021.658399.

The effects of 12 weeks' resistance training on psychological parameters and quality of life in adults with Facioscapulohumeral, Becker, and Limb-girdle dystrophies.

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

Disability and rehabilitation 2022; (44(20)):5950-5956 doi:10.1080/09638288.2021.1955306.

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.

A Muscle Biosignature Differentiating Between Limb-Girdle Muscular Dystrophy and Idiopathic Inflammatory Myopathy on Magnetic Resonance Imaging.

Hsu WC, Lin YC, Chuang HH, et al.

Frontiers in neurology 2021; (12()):783095 doi:10.3389/fneur.2021.783095.

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.

Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia.

Alharbi N, Matar R, Cupler E, et al.

Frontiers in neuroscience 2022; (16()):815556 doi:10.3389/fnins.2022.815556.

The effects of home exercise program on limb-girdle disease: a cohort study.

Turken A, Luckas M, Kavak V, et al.

Folia neuropathologica 2022; (60(1)):48-59 doi:10.5114/fn.2022.114149.

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 Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B.

Spadafora P, Qualtieri A, Cavalcanti F, et al.

International journal of molecular sciences 2022; (23(16)) doi:10.3390/ijms23168932.

Causative variants linked with limb girdle muscular dystrophy in an Iranian population: 6 novel variants.

Mianesaz H, Ghalamkari S, Salehi M, et al.

Molecular genetics & genomic medicine 2023; (11(2)):e2101 doi:10.1002/mgg3.2101.

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.

Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panels.

Oliwa A, Langlands G, Sarkozy A, et al.

Neuromuscular disorders : NMD 2023; (33(9)):98-105 doi:10.1016/j.nmd.2023.07.004.

Insomnia and sleep-disordered breathing in FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020).

Jensen S, Abeler K, Friborg O, et al.

Journal of neurology 2024; (271(1)):274-288 doi:10.1007/s00415-023-11978-7.

Current limitations of gene therapy for rare pediatric diseases: Lessons learned from clinical experience with AAV vectors.

Gardin A, Ronzitti G

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2023; (30(8S1)):8S46-8S52 doi:10.1016/S0929-693X(23)00227-0.

Gene therapy with bidridistrogene xeboparvovec for limb-girdle muscular dystrophy type 2E/R4: phase 1/2 trial results.

Mendell JR, Pozsgai ER, Lewis S, et al.

Nature medicine 2024; (30(1)):199-206 doi:10.1038/s41591-023-02730-9.

Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels.

Sarıkaya Uzan G, Yılmaz Uzman C, Çinleti T, et al.

Molecular syndromology 2024; (15(1)):14-21 doi:10.1159/000533976.

Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.

Iruzubieta P, Damborenea A, Ioghen M, et al.

Brain : a journal of neurology 2024; (147(8)):2867-2883 doi:10.1093/brain/awae046.

Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study.

Doody A, Alfano L, Diaz-Manera J, et al.

BMC neurology 2024; (24(1)):96 doi:10.1186/s12883-024-03588-1.

Split intein-mediated protein trans-splicing to express large dystrophins.

Tasfaout H, Halbert CL, McMillen TS, et al.

Nature 2024; (632(8023)):192-200 doi:10.1038/s41586-024-07710-8.

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.

Delivering large genes using adeno-associated virus and the CRE-lox DNA recombination system.

Datta P, Rhee KD, Staudt RJ, et al.

Human molecular genetics 2024; (33(24)):2094-2110 doi:10.1093/hmg/ddae144.

AAV-based TCAP delivery rescues mitochondria dislocation in limb-girdle muscular dystrophy R7.

Lv X, Liu S, Li X, et al.

Brain : a journal of neurology 2025; (148(5)):1680-1694 doi:10.1093/brain/awae351.

From Doubt to Diagnosis: Canadian Patient Perspectives on a Limb-Girdle Muscular Dystrophy Diagnosis.

Osman H, Adamji Z, Pfeffer G, et al.

Health expectations : an international journal of public participation in health care and health policy 2025; (28(3)):e70271 doi:10.1111/hex.70271.

Limb-Girdle Muscular Dystrophy Scientific Workshop: A Multistakeholder Discussion Focused on Charting the Path Forward for Drug Development.

Wicklund MP, Alfano LN, Johnson NE, et al.

Neurology. Clinical practice 2025; (15(5)):e200496 doi:10.1212/CPJ.0000000000200496.

A Straightforward Approach to Analyze Skeletal Muscle MRI in Limb-Girdle Muscular Dystrophy for Differential Diagnosis: A Systematic Review.

Morishima R, Schoser B

Muscles (Basel, Switzerland) 2023; (2(4)):374-388 doi:10.3390/muscles2040029.

Limb-Girdle Muscular Dystrophy D2 TNPO3-Related: A Quality of Life Study.

Rodríguez AA, Amayra I, García I, Angelini C

Muscles (Basel, Switzerland) 2023; (2(3)):274-285 doi:10.3390/muscles2030021.

An Update of Clinical, Epidemiological, and Psychosocial Features in Gamma-Sarcoglycanopathy.

Chabbi N, Angelini C, Rodriguez AA

Muscles (Basel, Switzerland) 2023; (2(2)):164-176 doi:10.3390/muscles2020012.

Cardiac MRI for early detection of subclinical cardiac dysfunction in dysferlinopathy.

Thomas A, Barthur A, Baskar D, et al.

Neuromuscular disorders : NMD 2025; (54()):106205 doi:10.1016/j.nmd.2025.106205.

Limb-Girdle Muscular Dystrophies.

Liewluck T

Continuum (Minneapolis, Minn.) 2025; (31(5)):1344-1371 doi:10.1212/cont.0000000000001615.

Pharmacokinetic and Pharmacodynamic Evaluation of Bidridistrogene Xeboparvovec in an Aged Murine Model of Limb-Girdle Muscular Dystrophy Type 2E/R4.

Baine S, Cui J, Seo YE, et al.

Human gene therapy 2026; (37(3-4)):93-101 doi:10.1177/10430342251393700.

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.

Deaths in gene therapy of Duchenne muscular dystrophy and other diseases: Underlying mechanisms and mitigating strategies.

Duan D, Herzog RW

Molecular therapy : the journal of the American Society of Gene Therapy 2026; (34(4)):1893-1908 doi:10.1016/j.ymthe.2025.12.067.