@article{323142d52b4d41468db84c8b33b7d527,
title = "Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related",
abstract = "Introduction: Reported frequencies of cardiomyopathy in limb girdle muscular dystrophy R9 (LGMDR9) vary. We describe the frequency and age at onset of cardiomyopathy in an LDMDR9 cohort. Methods: Echocardiograms from 56 subjects (157 echocardiograms) with LGMDR9 were retrospectively reviewed. The cumulative probability of having an abnormal echocardiogram as a function of age was assessed by survival analysis for interval-censored data by genotype. Correlations between cardiac and clinical function were evaluated. Results: Twenty-five (45%) participants had cardiomyopathy. The median age at first abnormal echocardiogram for subjects homozygous for the c.826C>A variant was 54.2 y compared to 18.1 y for all other fukutin-related protein (FKRP) genotypes (P <.0001). There was a weak correlation between ejection fraction and 10-Meter Walk Test speed (r = 0.25), but no correlation with forced vital capacity (r = 0.08). Discussion: Cardiomyopathy is prevalent among those with LGMDR9 and occurs later in subjects homozygous for the c.826C>A mutation. These data will help to guide surveillance and management.",
keywords = "All neuromuscular disease, FKRP, cardiomyopathy, dystroglycanopathy, limb-girdle muscular dystrophy, muscular dystrophy",
author = "Libell, {Eric M.} and Richardson, {Julia A.} and Lutz, {Katie L.} and Ng, {Benton Y.} and Mockler, {Shelley R.H.} and Laubscher, {Katie M.} and Stephan, {Carrie M.} and Zimmerman, {Bridget M.} and Edens, {Erik R.} and Reinking, {Benjamin E.} and Mathews, {Katherine D.}",
note = "Funding Information: Eric M. Libell, BS, receives funding from the University of Iowa Carver College of Medicine and the Paul D. Wellstone Muscular Dystrophy Cooperative Research Center grant (NIH U54 NS053672). Julia A. Richardson, BS, received funding from the University of Iowa Carver College of Medicine and the Paul D. Wellstone Muscular Dystrophy Cooperative Research Center grant (NIH U54 NS053672). Dr. Katie L. Lutz received funding from the University of Iowa Carver College of Medicine and the Paul D. Wellstone Muscular Dystrophy Cooperative Research Center grant (NIH U54 NS053672). Shelley R. H. Mockler, DSc, receives funding from NIH grant 2 U54 NS053672‐11, PTC Therapeutics Inc, Sarepta Therapeutics Inc, Italfarmaco SpA, Catabasis Pharmaceuticals Inc, Acceleron Pharma, and Shire/Takeda Pharmaceutical. Previously, funding was received from GlaxoSmithKline, Prosensa Therapeutics BV/BioMarin Pharmaceutical Inc, Pfizer Inc, FibroGen Inc, F. Hoffmann‐LaRoche LTD, Capricor Therapeutics, aTyr Pharma Inc, Eli Lilly and Company, and ViroPharma Inc. Katie M. Laubscher, DPT, receives funding from NIH grant 2 U54 NS053672‐11, PTC Therapeutics Inc, Sarepta Therapeutics Inc, Italfarmaco, Catabasis Pharmaceuticals Inc, Acceleron Pharma Inc. Previously, funding was received from Prosensa Therapeutics BV, Pfizer Inc, FibroGen Inc, aTyr Pharma Inc, F. Hoffmann‐LaRoche LTD, GlaxoSmithKline, Capricor Inc, Eli Lilly and Company, ViroPharma Inc. She has served as a paid consultant for Casimir LLC and Genentech, Inc. Carrie M. Stephan receives funding from NIH grant 2 U54 NS053672‐11, the Friedreich's Ataxia Research Alliance, AveXis, Inc., PTC Therapeutics Inc., Sarepta Therapeutics Inc., and Pfizer Inc. Previously, funding was received from GlaxoSmithKline, Eli Lilly and Company, FibroGen Inc., Marathon Pharmaceuticals LLC, aTyr Pharma Inc, Prosensa Therapeutics BV/BioMarin Pharmaceutical Inc., Horizon Pharma Ireland Ltd and ViroPharma Inc. Dr. M. Bridget Zimmerman receives funding from NIH grants 2 P01 HL0496925, 1 R01 HL 119882, 5 UM1 AR063381‐02, 2 U54 NS053672, 1 R01 MH104363‐01A1, 1U01 DK108334, 1 U54 TR0013564, and 1 R01 CA193249. Dr. Katherine D. Mathews receives funding from the Paul D. Wellstone Muscular Dystrophy Cooperative Research Center grant (NIH U54 Ns053672) and the Centers for Disease Control (U01 DD001248). She serves as an advisory board member for MDA and the FSH Society; is a board member for the Friedreich Ataxia Research Alliance (FARA); receives clinical trial funding from PTC Therapeutics, Sarepta Therapeutics, Pfizer, Santhera, Reata, Italfarmaco, CSL Behring; and serves as an industry consultant for Sarepta, Santhera, AveXis, and PTC (no personal compensation). The remaining authors have no conflicts of interest. FKRP Funding Information: We thank the patients and their families for their interest and participation, as well as the physicians who referred patients for participation in this study and provided medical records. This work was supported by NIH through the Iowa Wellstone Muscular Dystrophy Cooperative Research Center (U54 NS053672). Publisher Copyright: {\textcopyright} 2020 The Authors. Muscle & Nerve published by Wiley Periodicals LLC.",
year = "2020",
month = nov,
day = "1",
doi = "10.1002/mus.27052",
language = "English (US)",
volume = "62",
pages = "626--632",
journal = "Muscle and Nerve",
issn = "0148-639X",
publisher = "John Wiley and Sons Inc.",
number = "5",
}