Research & Literature

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.

Reevaluating Muscle Biopsies in the Diagnosis of Pompe Disease: A Corroborative Report.

Genge A, Campbell N

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2016; (43(4)):561-6 doi:10.1017/cjn.2016.29.

Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D.

Fayssoil A, Ogna A, Chaffaut C, et al.

PloS one 2016; (11(4)):e0153095 doi:10.1371/journal.pone.0153095.

AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression.

Gicquel E, Maizonnier N, Foltz SJ, et al.

Human molecular genetics 2017; (26(10)):1952-1965 doi:10.1093/hmg/ddx066.

Limb girdle muscular dystrophy type 2I: No correlation between clinical severity, histopathology and glycosylated α-dystroglycan levels in patients homozygous for common FKRP mutation.

Alhamidi M, Brox V, Stensland E, et al.

Neuromuscular disorders : NMD 2017; (27(7)):619-626 doi:10.1016/j.nmd.2017.02.015.

Efficacy of Gene Therapy Is Dependent on Disease Progression in Dystrophic Mice with Mutations in the FKRP Gene.

Vannoy CH, Xiao W, Lu P, et al.

Molecular therapy. Methods & clinical development 2017; (5()):31-42 doi:10.1016/j.omtm.2017.02.002.

Pompe disease in Austria: clinical, genetic and epidemiological aspects.

Löscher WN, Huemer M, Stulnig TM, et al.

Journal of neurology 2018; (265(1)):159-164 doi:10.1007/s00415-017-8686-6.

Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.

Sarkozy A, Torelli S, Mein R, et al.

Journal of neurology, neurosurgery, and psychiatry 2018; (89(7)):762-768 doi:10.1136/jnnp-2017-316956.

Ribitol restores functionally glycosylated α-dystroglycan and improves muscle function in dystrophic FKRP-mutant mice.

Cataldi MP, Lu P, Blaeser A, Lu QL

Nature communications 2018; (9(1)):3448 doi:10.1038/s41467-018-05990-z.

[Clinical features and FKRP mutations of congenital muscular dystrophy 1C].

Hong XW, Chen YH

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2018; (20(9)):765-768.

The unusual pattern of hereditary bleeding disorders in the province of Newfoundland and Labrador-Canada's most Eastern Province.

Scully MF, Stoffman J, Boyd S

Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis 2018; (57(6)):713-716 doi:10.1016/j.transci.2018.10.010.

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.

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.

ISPD Overexpression Enhances Ribitol-Induced Glycosylation of α-Dystroglycan in Dystrophic FKRP Mutant Mice.

Cataldi MP, Blaeser A, Lu P, et al.

Molecular therapy. Methods & clinical development 2020; (17()):271-280 doi:10.1016/j.omtm.2019.12.005.

A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy.

Saylam E, Moore SA, Aravindhan A, et al.

Neurology. Genetics 2020; (6(1)):e388 doi:10.1212/NXG.0000000000000388.

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.

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.

[Limb-Girdle Muscular Dystrophy type R9 linked to the FKRP gene: state of the art and therapeutic perspectives].

Villar Quiles RN, Richard I, Bouchet-Seraphin C, Stojkovic T

Medecine sciences : M/S 2020; (36 Hors série n° 2()):28-33 doi:10.1051/medsci/2020239.

Patterns of cardiac involvement in different muscular dystrophies assessed by magnetic resonance imaging.

Goebel J, Schult K, Schara U, et al.

Acta radiologica (Stockholm, Sweden : 1987) 2023; (64(2)):605-611 doi:10.1177/02841851221077402.

Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review.

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

Journal of neuromuscular diseases 2022; (9(4)):477-492 doi:10.3233/JND-210771.

Chemical and Chemo-Enzymatic Syntheses of Glycans Containing Ribitol Phosphate Scaffolding of Matriglycan.

Tamura JI, Tamura T, Hoshino S, et al.

ACS chemical biology 2022; (17(6)):1513-1523 doi:10.1021/acschembio.2c00181.

[Analysis of clinical features and genetic variants in three Chinese pedigrees affected with Limb girdle muscular dystrophy type 2I].

Wang G, Xu L, Zhao D, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022; (39(11)):1205-1210 doi:10.3760/cma.j.cn511374-20220107-00016.

Ribitol dose-dependently enhances matriglycan expression and improves muscle function with prolonged life span in limb girdle muscular dystrophy 2I mouse model.

Wu B, Drains M, Shah SN, et al.

PloS one 2022; (17(12)):e0278482 doi:10.1371/journal.pone.0278482.

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.

Pain interference and fatigue in limb-girdle muscular dystrophy R9.

Reelfs AM, Stephan CM, Mockler SRH, et al.

Neuromuscular disorders : NMD 2023; (33(6)):523-530 doi:10.1016/j.nmd.2023.05.005.

Efficacy and muscle safety assessment of fukutin-related protein gene therapy.

Benasutti H, Maricelli JW, Seto J, et al.

Molecular therapy. Methods & clinical development 2023; (30()):65-80 doi:10.1016/j.omtm.2023.05.022.

Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies.

Nallamilli BRR, Pan Y, Sniderman King L, et al.

Annals of clinical and translational neurology 2023; (10(11)):2092-2104 doi:10.1002/acn3.51896.

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.

Improved efficacy of FKRP AAV gene therapy by combination with ribitol treatment for LGMD2I.

Cataldi MP, Vannoy CH, Blaeser A, et al.

Molecular therapy : the journal of the American Society of Gene Therapy 2023; (31(12)):3478-3489 doi:10.1016/j.ymthe.2023.10.022.

Molecular Study of the Fukutin-Related Protein (FKRP) Gene in Patients from Southern Italy with Duchenne/Becker-like Phenotype.

Qualtieri A, De Benedittis S, Cerantonio A, et al.

International journal of molecular sciences 2024; (25(19)) doi:10.3390/ijms251910356.

Prospective observational study of FKRP-related limb-girdle muscular dystrophy R9: A GRASP consortium study.

Alfano LN, James MK, Grosfjeld Petersen K, et al.

Annals of clinical and translational neurology 2025; (12(2)):332-344 doi:10.1002/acn3.52276.

Screening for Pompe disease in Serbian patients with limb-girdle muscle weakness.

Sekulic A, Viric V, Todorovic T, et al.

Clinical neurology and neurosurgery 2025; (254()):108950 doi:10.1016/j.clineuro.2025.108950.

Segmental Strain and Strain-Rate Imaging to Assess Cardiac Function in Patients With Limb-Girdle Muscular Dystrophy R9: An Observational Study of the Norwegian LGMDR9 Cohort.

Caglayan S, Akay Caglayan H, Jensen SM, et al.

Echocardiography (Mount Kisco, N.Y.) 2025; (42(6)):e70202 doi:10.1111/echo.70202.

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.

Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9.

Miller CL, Coffey LN, Mockler SRH, et al.

Annals of clinical and translational neurology 2026; (13(6)):1154-1159 doi:10.1002/acn3.70299.

Quantitative Measurement of Glycosylated ⍺-Dystroglycan as a Biomarker for Disease Severity in Limb-Girdle Muscular Dystrophy Type 2I/R9.

Vissing J, Mozaffar T, Johnson NE, et al.

Neurology. Genetics 2026; (12(2)):e200370 doi:10.1212/NXG.0000000000200370.