Publications

The Global FKRP Patient Registry has been involved in supporting a variety of research studies since 2020. Please find below the publications involving the registry. To read these, click on the link in the study title. 

• Murphy LB, Schreiber-Katz O, Rafferty K, Robertson A, Topf A, Willis TA, Heidemann M, Thiele S, Bindoff L, Laurent JP, Lochmüller H, Mathews K, Mitchell C, Stevenson JH, Vissing J, Woods L, Walter MC, Straub V. Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9. Ann Clin Transl Neurol. 2020 May;7(5):757-766. doi: 10.1002/acn3.51042.  

• Stouffer JA, Bates K, Thacker LR, Heatwole C, Johnson NE. The Limb Girdle Muscular Dystrophy Health Index (LGMD-HI). Neuromuscul Disord. 2024 Jun;39:48-53. doi: 10.1016/j.nmd.2024.04.008. Epub 2024 Apr 29.  

• Jensen SM, Müller KI, Mellgren SI, Bindoff LA, Rasmussen M, Ørstavik K, Jonsrud C, Tveten K, Nilssen Ø, Van Ghelue M, Arntzen KA. Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020). Neuromuscul Disord. 2023 Feb;33(2):119-132. doi: 10.1016/j.nmd.2022.11.005. 

• Kovalchick LV, Bates K, Statland J, Weihl C, Kang PB, Lowes LP, Mozaffar T, Straub V, Wicklund M, Heatwole C, Johnson NE. Patient reported quality of life in limb girdle muscular dystrophy. Neuromuscul Disord. 2022 Jan;32(1):57-64. doi: 10.1016/j.nmd.2021.11.002.  

• Richardson M, Mayhew A, Muni-Lofra R, Murphy LB, Straub V. Prevalence of Pain within Limb Girdle Muscular Dystrophy R9 and Implications for Other Degenerative Diseases. J Clin Med. 2021 Nov 25;10(23):5517. doi: 10.3390/jcm10235517.