ArticleNeurology2018
A multinational study on motor function in early-onset FSHD.
Abstract readMulticenter Study
In one paragraph
Article in Neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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0cells of the map it votes in
9citing papers in PubMed
–field-weighted citation impact
What it found
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The trial behind it
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Who cites it
9 citing papers in PubMed.
- Muscular Dystrophies.Advances in experimental medicine and biology · 2025Review
- Prevalence and disease progression of genetically-confirmed facioscapulohumeral muscular dystrophy type 1 (FSHD1) in China between 2001 and 2020: a nationwide population-based study.The Lancet regional health. Western Pacific · 2022Article
- Article
- Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: roles of DUX4 and PAX7.EMBO molecular medicine · 2021Review
- A 5-year clinical follow-up study from the Italian National Registry for FSHD.Journal of neurology · 2021Observational
- Multi-Omics Identifies Circulating miRNA and Protein Biomarkers for Facioscapulohumeral Dystrophy.Journal of personalized medicine · 2020Article
- Early-Onset Infantile Facioscapulohumeral Muscular Dystrophy: A Timely Review.International journal of molecular sciences · 2020Review
- Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy.JAMA network open · 2020Article
- Facioscapulohumeral Muscular Dystrophy: Update on Pathogenesis and Future Treatments.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2018Review
Corrections and comments
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Authors and funding
22 authors.
Jean K MahFrom the University of Calgary (J.K.M.), Alberta Children's Hospital, Canada; Children's National Medical Center (J.F., M.B.J., C.L.C., L.M., M.T., A.C., Y.-W.C.), Washington, DC; Stanford University (T.D.), CA; Royal Children's Hospital (K.C., K.d.V., M.M.R.), Melbourne, Australia; Newcastle Upon Tyne Hospitals (M.G.), UK; University of Pittsburgh (P.R.C.) and the Department of Veteran Affairs Medical Center, PA; Children's Hospital at Westmead (R.W.), Sydney, Australia; Duke Medical Center (E.S.), Durham, NC; Washington University (A.M.C.), St. Louis, MO; University of California at Davis Medical Center (C.M.M.), Sacramento; University of Minnesota (P.K.), Minneapolis; Gothenburg University (M.T.), Queen Silvia Children's Hospital, Sweden; Carolinas Medical Center (A.H.), Charlotte, NC; and Therapeutic Research in Neuromuscular Disorders Solutions (L.P.M.), LLC, Kensington, MD. jkmah@ucalgary.ca.
Jia FengFrom the University of Calgary (J.K.M.), Alberta Children's Hospital, Canada; Children's National Medical Center (J.F., M.B.J., C.L.C., L.M., M.T., A.C., Y.-W.C.), Washington, DC; Stanford University (T.D.), CA; Royal Children's Hospital (K.C., K.d.V., M.M.R.), Melbourne, Australia; Newcastle Upon Tyne Hospitals (M.G.), UK; University of Pittsburgh (P.R.C.) and the Department of Veteran Affairs Medical Center, PA; Children's Hospital at Westmead (R.W.), Sydney, Australia; Duke Medical Center (E.S.), Durham, NC; Washington University (A.M.C.), St. Louis, MO; University of California at Davis Medical Center (C.M.M.), Sacramento; University of Minnesota (P.K.), Minneapolis; Gothenburg University (M.T.), Queen Silvia Children's Hospital, Sweden; Carolinas Medical Center (A.H.), Charlotte, NC; and Therapeutic Research in Neuromuscular Disorders Solutions (L.P.M.), LLC, Kensington, MD.
Marni B JacobsFrom the University of Calgary (J.K.M.), Alberta Children's Hospital, Canada; Children's National Medical Center (J.F., M.B.J., C.L.C., L.M., M.T., A.C., Y.-W.C.), Washington, DC; Stanford University (T.D.), CA; Royal Children's Hospital (K.C., K.d.V., M.M.R.), Melbourne, Australia; Newcastle Upon Tyne Hospitals (M.G.), UK; University of Pittsburgh (P.R.C.) and the Department of Veteran Affairs Medical Center, PA; Children's Hospital at Westmead (R.W.), Sydney, Australia; Duke Medical Center (E.S.), Durham, NC; Washington University (A.M.C.), St. Louis, MO; University of California at Davis Medical Center (C.M.M.), Sacramento; University of Minnesota (P.K.), Minneapolis; Gothenburg University (M.T.), Queen Silvia Children's Hospital, Sweden; Carolinas Medical Center (A.H.), Charlotte, NC; and Therapeutic Research in Neuromuscular Disorders Solutions (L.P.M.), LLC, Kensington, MD.
Tina DuongFrom the University of Calgary (J.K.M.), Alberta Children's Hospital, Canada; Children's National Medical Center (J.F., M.B.J., C.L.C., L.M., M.T., A.C., Y.-W.C.), Washington, DC; Stanford University (T.D.), CA; Royal Children's Hospital (K.C., K.d.V., M.M.R.), Melbourne, Australia; Newcastle Upon Tyne Hospitals (M.G.), UK; University of Pittsburgh (P.R.C.) and the Department of Veteran Affairs Medical Center, PA; Children's Hospital at Westmead (R.W.), Sydney, Australia; Duke Medical Center (E.S.), Durham, NC; Washington University (A.M.C.), St. Louis, MO; University of California at Davis Medical Center (C.M.M.), Sacramento; University of Minnesota (P.K.), Minneapolis; Gothenburg University (M.T.), Queen Silvia Children's Hospital, Sweden; Carolinas Medical Center (A.H.), Charlotte, NC; and Therapeutic Research in Neuromuscular Disorders Solutions (L.P.M.), LLC, Kensington, MD.
Kate CarrollFrom the University of Calgary (J.K.M.), Alberta Children's Hospital, Canada; Children's National Medical Center (J.F., M.B.J., C.L.C., L.M., M.T., A.C., Y.-W.C.), Washington, DC; Stanford University (T.D.), CA; Royal Children's Hospital (K.C., K.d.V., M.M.R.), Melbourne, Australia; Newcastle Upon Tyne Hospitals (M.G.), UK; University of Pittsburgh (P.R.C.) and the Department of Veteran Affairs Medical Center, PA; Children's Hospital at Westmead (R.W.), Sydney, Australia; Duke Medical Center (E.S.), Durham, NC; Washington University (A.M.C.), St. Louis, MO; University of California at Davis Medical Center (C.M.M.), Sacramento; University of Minnesota (P.K.), Minneapolis; Gothenburg University (M.T.), Queen Silvia Children's Hospital, Sweden; Carolinas Medical Center (A.H.), Charlotte, NC; and Therapeutic Research in Neuromuscular Disorders Solutions (L.P.M.), LLC, Kensington, MD.
Katy de ValleFrom the University of Calgary (J.K.M.), Alberta Children's Hospital, Canada; Children's National Medical Center (J.F., M.B.J., C.L.C., L.M., M.T., A.C., Y.-W.C.), Washington, DC; Stanford University (T.D.), CA; Royal Children's Hospital (K.C., K.d.V., M.M.R.), Melbourne, Australia; Newcastle Upon Tyne Hospitals (M.G.), UK; University of Pittsburgh (P.R.C.) and the Department of Veteran Affairs Medical Center, PA; Children's Hospital at Westmead (R.W.), Sydney, Australia; Duke Medical Center (E.S.), Durham, NC; Washington University (A.M.C.), St. Louis, MO; University of California at Davis Medical Center (C.M.M.), Sacramento; University of Minnesota (P.K.), Minneapolis; Gothenburg University (M.T.), Queen Silvia Children's Hospital, Sweden; Carolinas Medical Center (A.H.), Charlotte, NC; and Therapeutic Research in Neuromuscular Disorders Solutions (L.P.M.), LLC, Kensington, MD.
Cara L CartyFrom the University of Calgary (J.K.M.), Alberta Children's Hospital, Canada; Children's National Medical Center (J.F., M.B.J., C.L.C., L.M., M.T., A.C., Y.-W.C.), Washington, DC; Stanford University (T.D.), CA; Royal Children's Hospital (K.C., K.d.V., M.M.R.), Melbourne, Australia; Newcastle Upon Tyne Hospitals (M.G.), UK; University of Pittsburgh (P.R.C.) and the Department of Veteran Affairs Medical Center, PA; Children's Hospital at Westmead (R.W.), Sydney, Australia; Duke Medical Center (E.S.), Durham, NC; Washington University (A.M.C.), St. Louis, MO; University of California at Davis Medical Center (C.M.M.), Sacramento; University of Minnesota (P.K.), Minneapolis; Gothenburg University (M.T.), Queen Silvia Children's Hospital, Sweden; Carolinas Medical Center (A.H.), Charlotte, NC; and Therapeutic Research in Neuromuscular Disorders Solutions (L.P.M.), LLC, Kensington, MD.
Lauren P MorgenrothFrom the University of Calgary (J.K.M.), Alberta Children's Hospital, Canada; Children's National Medical Center (J.F., M.B.J., C.L.C., L.M., M.T., A.C., Y.-W.C.), Washington, DC; Stanford University (T.D.), CA; Royal Children's Hospital (K.C., K.d.V., M.M.R.), Melbourne, Australia; Newcastle Upon Tyne Hospitals (M.G.), UK; University of Pittsburgh (P.R.C.) and the Department of Veteran Affairs Medical Center, PA; Children's Hospital at Westmead (R.W.), Sydney, Australia; Duke Medical Center (E.S.), Durham, NC; Washington University (A.M.C.), St. Louis, MO; University of California at Davis Medical Center (C.M.M.), Sacramento; University of Minnesota (P.K.), Minneapolis; Gothenburg University (M.T.), Queen Silvia Children's Hospital, Sweden; Carolinas Medical Center (A.H.), Charlotte, NC; and Therapeutic Research in Neuromuscular Disorders Solutions (L.P.M.), LLC, Kensington, MD.
Michela GuglieriFrom the University of Calgary (J.K.M.), Alberta Children's Hospital, Canada; Children's National Medical Center (J.F., M.B.J., C.L.C., L.M., M.T., A.C., Y.-W.C.), Washington, DC; Stanford University (T.D.), CA; Royal Children's Hospital (K.C., K.d.V., M.M.R.), Melbourne, Australia; Newcastle Upon Tyne Hospitals (M.G.), UK; University of Pittsburgh (P.R.C.) and the Department of Veteran Affairs Medical Center, PA; Children's Hospital at Westmead (R.W.), Sydney, Australia; Duke Medical Center (E.S.), Durham, NC; Washington University (A.M.C.), St. Louis, MO; University of California at Davis Medical Center (C.M.M.), Sacramento; University of Minnesota (P.K.), Minneapolis; Gothenburg University (M.T.), Queen Silvia Children's Hospital, Sweden; Carolinas Medical Center (A.H.), Charlotte, NC; and Therapeutic Research in Neuromuscular Disorders Solutions (L.P.M.), LLC, Kensington, MD.
Monique M RyanFrom the University of Calgary (J.K.M.), Alberta Children's Hospital, Canada; Children's National Medical Center (J.F., M.B.J., C.L.C., L.M., M.T., A.C., Y.-W.C.), Washington, DC; Stanford University (T.D.), CA; Royal Children's Hospital (K.C., K.d.V., M.M.R.), Melbourne, Australia; Newcastle Upon Tyne Hospitals (M.G.), UK; University of Pittsburgh (P.R.C.) and the Department of Veteran Affairs Medical Center, PA; Children's Hospital at Westmead (R.W.), Sydney, Australia; Duke Medical Center (E.S.), Durham, NC; Washington University (A.M.C.), St. Louis, MO; University of California at Davis Medical Center (C.M.M.), Sacramento; University of Minnesota (P.K.), Minneapolis; Gothenburg University (M.T.), Queen Silvia Children's Hospital, Sweden; Carolinas Medical Center (A.H.), Charlotte, NC; and Therapeutic Research in Neuromuscular Disorders Solutions (L.P.M.), LLC, Kensington, MD.
Paula R ClemensFrom the University of Calgary (J.K.M.), Alberta Children's Hospital, Canada; Children's National Medical Center (J.F., M.B.J., C.L.C., L.M., M.T., A.C., Y.-W.C.), Washington, DC; Stanford University (T.D.), CA; Royal Children's Hospital (K.C., K.d.V., M.M.R.), Melbourne, Australia; Newcastle Upon Tyne Hospitals (M.G.), UK; University of Pittsburgh (P.R.C.) and the Department of Veteran Affairs Medical Center, PA; Children's Hospital at Westmead (R.W.), Sydney, Australia; Duke Medical Center (E.S.), Durham, NC; Washington University (A.M.C.), St. Louis, MO; University of California at Davis Medical Center (C.M.M.), Sacramento; University of Minnesota (P.K.), Minneapolis; Gothenburg University (M.T.), Queen Silvia Children's Hospital, Sweden; Carolinas Medical Center (A.H.), Charlotte, NC; and Therapeutic Research in Neuromuscular Disorders Solutions (L.P.M.), LLC, Kensington, MD.
Mathula ThangarajhFrom the University of Calgary (J.K.M.), Alberta Children's Hospital, Canada; Children's National Medical Center (J.F., M.B.J., C.L.C., L.M., M.T., A.C., Y.-W.C.), Washington, DC; Stanford University (T.D.), CA; Royal Children's Hospital (K.C., K.d.V., M.M.R.), Melbourne, Australia; Newcastle Upon Tyne Hospitals (M.G.), UK; University of Pittsburgh (P.R.C.) and the Department of Veteran Affairs Medical Center, PA; Children's Hospital at Westmead (R.W.), Sydney, Australia; Duke Medical Center (E.S.), Durham, NC; Washington University (A.M.C.), St. Louis, MO; University of California at Davis Medical Center (C.M.M.), Sacramento; University of Minnesota (P.K.), Minneapolis; Gothenburg University (M.T.), Queen Silvia Children's Hospital, Sweden; Carolinas Medical Center (A.H.), Charlotte, NC; and Therapeutic Research in Neuromuscular Disorders Solutions (L.P.M.), LLC, Kensington, MD.
Richard WebsterFrom the University of Calgary (J.K.M.), Alberta Children's Hospital, Canada; Children's National Medical Center (J.F., M.B.J., C.L.C., L.M., M.T., A.C., Y.-W.C.), Washington, DC; Stanford University (T.D.), CA; Royal Children's Hospital (K.C., K.d.V., M.M.R.), Melbourne, Australia; Newcastle Upon Tyne Hospitals (M.G.), UK; University of Pittsburgh (P.R.C.) and the Department of Veteran Affairs Medical Center, PA; Children's Hospital at Westmead (R.W.), Sydney, Australia; Duke Medical Center (E.S.), Durham, NC; Washington University (A.M.C.), St. Louis, MO; University of California at Davis Medical Center (C.M.M.), Sacramento; University of Minnesota (P.K.), Minneapolis; Gothenburg University (M.T.), Queen Silvia Children's Hospital, Sweden; Carolinas Medical Center (A.H.), Charlotte, NC; and Therapeutic Research in Neuromuscular Disorders Solutions (L.P.M.), LLC, Kensington, MD.
Edward SmithFrom the University of Calgary (J.K.M.), Alberta Children's Hospital, Canada; Children's National Medical Center (J.F., M.B.J., C.L.C., L.M., M.T., A.C., Y.-W.C.), Washington, DC; Stanford University (T.D.), CA; Royal Children's Hospital (K.C., K.d.V., M.M.R.), Melbourne, Australia; Newcastle Upon Tyne Hospitals (M.G.), UK; University of Pittsburgh (P.R.C.) and the Department of Veteran Affairs Medical Center, PA; Children's Hospital at Westmead (R.W.), Sydney, Australia; Duke Medical Center (E.S.), Durham, NC; Washington University (A.M.C.), St. Louis, MO; University of California at Davis Medical Center (C.M.M.), Sacramento; University of Minnesota (P.K.), Minneapolis; Gothenburg University (M.T.), Queen Silvia Children's Hospital, Sweden; Carolinas Medical Center (A.H.), Charlotte, NC; and Therapeutic Research in Neuromuscular Disorders Solutions (L.P.M.), LLC, Kensington, MD.
Anne M ConnollyFrom the University of Calgary (J.K.M.), Alberta Children's Hospital, Canada; Children's National Medical Center (J.F., M.B.J., C.L.C., L.M., M.T., A.C., Y.-W.C.), Washington, DC; Stanford University (T.D.), CA; Royal Children's Hospital (K.C., K.d.V., M.M.R.), Melbourne, Australia; Newcastle Upon Tyne Hospitals (M.G.), UK; University of Pittsburgh (P.R.C.) and the Department of Veteran Affairs Medical Center, PA; Children's Hospital at Westmead (R.W.), Sydney, Australia; Duke Medical Center (E.S.), Durham, NC; Washington University (A.M.C.), St. Louis, MO; University of California at Davis Medical Center (C.M.M.), Sacramento; University of Minnesota (P.K.), Minneapolis; Gothenburg University (M.T.), Queen Silvia Children's Hospital, Sweden; Carolinas Medical Center (A.H.), Charlotte, NC; and Therapeutic Research in Neuromuscular Disorders Solutions (L.P.M.), LLC, Kensington, MD.
Craig M McDonaldFrom the University of Calgary (J.K.M.), Alberta Children's Hospital, Canada; Children's National Medical Center (J.F., M.B.J., C.L.C., L.M., M.T., A.C., Y.-W.C.), Washington, DC; Stanford University (T.D.), CA; Royal Children's Hospital (K.C., K.d.V., M.M.R.), Melbourne, Australia; Newcastle Upon Tyne Hospitals (M.G.), UK; University of Pittsburgh (P.R.C.) and the Department of Veteran Affairs Medical Center, PA; Children's Hospital at Westmead (R.W.), Sydney, Australia; Duke Medical Center (E.S.), Durham, NC; Washington University (A.M.C.), St. Louis, MO; University of California at Davis Medical Center (C.M.M.), Sacramento; University of Minnesota (P.K.), Minneapolis; Gothenburg University (M.T.), Queen Silvia Children's Hospital, Sweden; Carolinas Medical Center (A.H.), Charlotte, NC; and Therapeutic Research in Neuromuscular Disorders Solutions (L.P.M.), LLC, Kensington, MD.
Peter KarachunskiFrom the University of Calgary (J.K.M.), Alberta Children's Hospital, Canada; Children's National Medical Center (J.F., M.B.J., C.L.C., L.M., M.T., A.C., Y.-W.C.), Washington, DC; Stanford University (T.D.), CA; Royal Children's Hospital (K.C., K.d.V., M.M.R.), Melbourne, Australia; Newcastle Upon Tyne Hospitals (M.G.), UK; University of Pittsburgh (P.R.C.) and the Department of Veteran Affairs Medical Center, PA; Children's Hospital at Westmead (R.W.), Sydney, Australia; Duke Medical Center (E.S.), Durham, NC; Washington University (A.M.C.), St. Louis, MO; University of California at Davis Medical Center (C.M.M.), Sacramento; University of Minnesota (P.K.), Minneapolis; Gothenburg University (M.T.), Queen Silvia Children's Hospital, Sweden; Carolinas Medical Center (A.H.), Charlotte, NC; and Therapeutic Research in Neuromuscular Disorders Solutions (L.P.M.), LLC, Kensington, MD.
Mar TuliniusFrom the University of Calgary (J.K.M.), Alberta Children's Hospital, Canada; Children's National Medical Center (J.F., M.B.J., C.L.C., L.M., M.T., A.C., Y.-W.C.), Washington, DC; Stanford University (T.D.), CA; Royal Children's Hospital (K.C., K.d.V., M.M.R.), Melbourne, Australia; Newcastle Upon Tyne Hospitals (M.G.), UK; University of Pittsburgh (P.R.C.) and the Department of Veteran Affairs Medical Center, PA; Children's Hospital at Westmead (R.W.), Sydney, Australia; Duke Medical Center (E.S.), Durham, NC; Washington University (A.M.C.), St. Louis, MO; University of California at Davis Medical Center (C.M.M.), Sacramento; University of Minnesota (P.K.), Minneapolis; Gothenburg University (M.T.), Queen Silvia Children's Hospital, Sweden; Carolinas Medical Center (A.H.), Charlotte, NC; and Therapeutic Research in Neuromuscular Disorders Solutions (L.P.M.), LLC, Kensington, MD.
Amy HarperFrom the University of Calgary (J.K.M.), Alberta Children's Hospital, Canada; Children's National Medical Center (J.F., M.B.J., C.L.C., L.M., M.T., A.C., Y.-W.C.), Washington, DC; Stanford University (T.D.), CA; Royal Children's Hospital (K.C., K.d.V., M.M.R.), Melbourne, Australia; Newcastle Upon Tyne Hospitals (M.G.), UK; University of Pittsburgh (P.R.C.) and the Department of Veteran Affairs Medical Center, PA; Children's Hospital at Westmead (R.W.), Sydney, Australia; Duke Medical Center (E.S.), Durham, NC; Washington University (A.M.C.), St. Louis, MO; University of California at Davis Medical Center (C.M.M.), Sacramento; University of Minnesota (P.K.), Minneapolis; Gothenburg University (M.T.), Queen Silvia Children's Hospital, Sweden; Carolinas Medical Center (A.H.), Charlotte, NC; and Therapeutic Research in Neuromuscular Disorders Solutions (L.P.M.), LLC, Kensington, MD.
Avital CnaanFrom the University of Calgary (J.K.M.), Alberta Children's Hospital, Canada; Children's National Medical Center (J.F., M.B.J., C.L.C., L.M., M.T., A.C., Y.-W.C.), Washington, DC; Stanford University (T.D.), CA; Royal Children's Hospital (K.C., K.d.V., M.M.R.), Melbourne, Australia; Newcastle Upon Tyne Hospitals (M.G.), UK; University of Pittsburgh (P.R.C.) and the Department of Veteran Affairs Medical Center, PA; Children's Hospital at Westmead (R.W.), Sydney, Australia; Duke Medical Center (E.S.), Durham, NC; Washington University (A.M.C.), St. Louis, MO; University of California at Davis Medical Center (C.M.M.), Sacramento; University of Minnesota (P.K.), Minneapolis; Gothenburg University (M.T.), Queen Silvia Children's Hospital, Sweden; Carolinas Medical Center (A.H.), Charlotte, NC; and Therapeutic Research in Neuromuscular Disorders Solutions (L.P.M.), LLC, Kensington, MD.
Yi-Wen ChenFrom the University of Calgary (J.K.M.), Alberta Children's Hospital, Canada; Children's National Medical Center (J.F., M.B.J., C.L.C., L.M., M.T., A.C., Y.-W.C.), Washington, DC; Stanford University (T.D.), CA; Royal Children's Hospital (K.C., K.d.V., M.M.R.), Melbourne, Australia; Newcastle Upon Tyne Hospitals (M.G.), UK; University of Pittsburgh (P.R.C.) and the Department of Veteran Affairs Medical Center, PA; Children's Hospital at Westmead (R.W.), Sydney, Australia; Duke Medical Center (E.S.), Durham, NC; Washington University (A.M.C.), St. Louis, MO; University of California at Davis Medical Center (C.M.M.), Sacramento; University of Minnesota (P.K.), Minneapolis; Gothenburg University (M.T.), Queen Silvia Children's Hospital, Sweden; Carolinas Medical Center (A.H.), Charlotte, NC; and Therapeutic Research in Neuromuscular Disorders Solutions (L.P.M.), LLC, Kensington, MD.
Cooperative International Neuromuscular Research Group (CINRG) Investigators
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesTo investigate motor function associations with age, sex, and
methodsWe collected standardized motor assessments, including manual muscle testing (MMT), quantitative muscle testing, functional motor evaluations, and clinical severity scores (CSSs), at 12 Cooperative International Neuromuscular Research Group centers. To measure associations, we used linear regression models adjusted for sex, evaluation age, age at onset of weakness, and
resultsAmong 52 participants (60% female, mean age 22.9 ± 14.7 years), weakness was most pronounced in the shoulder and abdominal musculature. Older enrollment age was associated with greater CSSs (
conclusionSignificant clinical variability was observed in early-onset FSHD. Earlier age at onset of facial weakness was associated with greater disease severity. Longitudinal assessments are needed to determine the rate of disease progression in this population.
Indexed as
Motor ActivityMuscle WeaknessAge of OnsetCross-Sectional StudiesDNA Repeat ExpansionFemaleHumansMaleMuscular Dystrophy, FacioscapulohumeralRange of Motion, ArticularSeverity of Illness IndexYoung Adult
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