Evidence map›Paper›PMID 37440793›Full record

ArticleNeurology. Genetics2023

Longitudinal Analysis of Respiratory Function of Different Types of Limb Girdle Muscular Dystrophies Reveals Independent Trajectories.

Robert Muni-Lofra, Eduard Juanola-Mayos, Marianela Schiava, Dionne Moat, Maha Elseed, Jassi Michel-Sodhi, Elizabeth Harris, Michelle McCallum, Ursula Moore, Mark Richardson and 13 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.2field-weighted citation impact, top 21% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 8 citations in OpenAlex.

  1. Respiratory function in Becker muscular dystrophy: a comprehensive longitudinal study.Journal of neurology, neurosurgery, and psychiatry · 2026
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  2. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

23 authors at 1 institution in 3 countries.

Robert Muni-LofraFrom the John Walton Muscular Dystrophy Research Centre (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Translational and Clinical Research Institute, Newcastle University, UK; Highly Specialized Service for Rare Neuromuscular Disorders (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Limb Girdle Muscular Dystrophies, Genetics Department, Integrated Laboratory Medicine, Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; and Neuromuscular Diseases Unit, Neurology Department, Hospital Germans Tries I Pujol (E.J.-M.), Badalona, Spain.ORCID https://orcid.org/0000-0002-8901-9140
Eduard Juanola-MayosFrom the John Walton Muscular Dystrophy Research Centre (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Translational and Clinical Research Institute, Newcastle University, UK; Highly Specialized Service for Rare Neuromuscular Disorders (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Limb Girdle Muscular Dystrophies, Genetics Department, Integrated Laboratory Medicine, Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; and Neuromuscular Diseases Unit, Neurology Department, Hospital Germans Tries I Pujol (E.J.-M.), Badalona, Spain.
Marianela SchiavaFrom the John Walton Muscular Dystrophy Research Centre (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Translational and Clinical Research Institute, Newcastle University, UK; Highly Specialized Service for Rare Neuromuscular Disorders (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Limb Girdle Muscular Dystrophies, Genetics Department, Integrated Laboratory Medicine, Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; and Neuromuscular Diseases Unit, Neurology Department, Hospital Germans Tries I Pujol (E.J.-M.), Badalona, Spain.ORCID https://orcid.org/0000-0002-2709-265X
Dionne MoatFrom the John Walton Muscular Dystrophy Research Centre (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Translational and Clinical Research Institute, Newcastle University, UK; Highly Specialized Service for Rare Neuromuscular Disorders (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Limb Girdle Muscular Dystrophies, Genetics Department, Integrated Laboratory Medicine, Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; and Neuromuscular Diseases Unit, Neurology Department, Hospital Germans Tries I Pujol (E.J.-M.), Badalona, Spain.
Maha ElseedFrom the John Walton Muscular Dystrophy Research Centre (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Translational and Clinical Research Institute, Newcastle University, UK; Highly Specialized Service for Rare Neuromuscular Disorders (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Limb Girdle Muscular Dystrophies, Genetics Department, Integrated Laboratory Medicine, Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; and Neuromuscular Diseases Unit, Neurology Department, Hospital Germans Tries I Pujol (E.J.-M.), Badalona, Spain.
Jassi Michel-SodhiFrom the John Walton Muscular Dystrophy Research Centre (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Translational and Clinical Research Institute, Newcastle University, UK; Highly Specialized Service for Rare Neuromuscular Disorders (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Limb Girdle Muscular Dystrophies, Genetics Department, Integrated Laboratory Medicine, Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; and Neuromuscular Diseases Unit, Neurology Department, Hospital Germans Tries I Pujol (E.J.-M.), Badalona, Spain.
Elizabeth HarrisFrom the John Walton Muscular Dystrophy Research Centre (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Translational and Clinical Research Institute, Newcastle University, UK; Highly Specialized Service for Rare Neuromuscular Disorders (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Limb Girdle Muscular Dystrophies, Genetics Department, Integrated Laboratory Medicine, Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; and Neuromuscular Diseases Unit, Neurology Department, Hospital Germans Tries I Pujol (E.J.-M.), Badalona, Spain.ORCID https://orcid.org/0000-0002-4489-3977
Michelle McCallumFrom the John Walton Muscular Dystrophy Research Centre (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Translational and Clinical Research Institute, Newcastle University, UK; Highly Specialized Service for Rare Neuromuscular Disorders (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Limb Girdle Muscular Dystrophies, Genetics Department, Integrated Laboratory Medicine, Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; and Neuromuscular Diseases Unit, Neurology Department, Hospital Germans Tries I Pujol (E.J.-M.), Badalona, Spain.
Ursula MooreFrom the John Walton Muscular Dystrophy Research Centre (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Translational and Clinical Research Institute, Newcastle University, UK; Highly Specialized Service for Rare Neuromuscular Disorders (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Limb Girdle Muscular Dystrophies, Genetics Department, Integrated Laboratory Medicine, Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; and Neuromuscular Diseases Unit, Neurology Department, Hospital Germans Tries I Pujol (E.J.-M.), Badalona, Spain.
Mark RichardsonFrom the John Walton Muscular Dystrophy Research Centre (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Translational and Clinical Research Institute, Newcastle University, UK; Highly Specialized Service for Rare Neuromuscular Disorders (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Limb Girdle Muscular Dystrophies, Genetics Department, Integrated Laboratory Medicine, Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; and Neuromuscular Diseases Unit, Neurology Department, Hospital Germans Tries I Pujol (E.J.-M.), Badalona, Spain.
Christina TrainorFrom the John Walton Muscular Dystrophy Research Centre (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Translational and Clinical Research Institute, Newcastle University, UK; Highly Specialized Service for Rare Neuromuscular Disorders (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Limb Girdle Muscular Dystrophies, Genetics Department, Integrated Laboratory Medicine, Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; and Neuromuscular Diseases Unit, Neurology Department, Hospital Germans Tries I Pujol (E.J.-M.), Badalona, Spain.
Karen WongFrom the John Walton Muscular Dystrophy Research Centre (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Translational and Clinical Research Institute, Newcastle University, UK; Highly Specialized Service for Rare Neuromuscular Disorders (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Limb Girdle Muscular Dystrophies, Genetics Department, Integrated Laboratory Medicine, Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; and Neuromuscular Diseases Unit, Neurology Department, Hospital Germans Tries I Pujol (E.J.-M.), Badalona, Spain.
Monika MalinovaFrom the John Walton Muscular Dystrophy Research Centre (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Translational and Clinical Research Institute, Newcastle University, UK; Highly Specialized Service for Rare Neuromuscular Disorders (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Limb Girdle Muscular Dystrophies, Genetics Department, Integrated Laboratory Medicine, Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; and Neuromuscular Diseases Unit, Neurology Department, Hospital Germans Tries I Pujol (E.J.-M.), Badalona, Spain.
Carla Bolano-DiazFrom the John Walton Muscular Dystrophy Research Centre (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Translational and Clinical Research Institute, Newcastle University, UK; Highly Specialized Service for Rare Neuromuscular Disorders (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Limb Girdle Muscular Dystrophies, Genetics Department, Integrated Laboratory Medicine, Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; and Neuromuscular Diseases Unit, Neurology Department, Hospital Germans Tries I Pujol (E.J.-M.), Badalona, Spain.
Michael John KeoghFrom the John Walton Muscular Dystrophy Research Centre (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Translational and Clinical Research Institute, Newcastle University, UK; Highly Specialized Service for Rare Neuromuscular Disorders (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Limb Girdle Muscular Dystrophies, Genetics Department, Integrated Laboratory Medicine, Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; and Neuromuscular Diseases Unit, Neurology Department, Hospital Germans Tries I Pujol (E.J.-M.), Badalona, Spain.
Elisabetta GhimentonFrom the John Walton Muscular Dystrophy Research Centre (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Translational and Clinical Research Institute, Newcastle University, UK; Highly Specialized Service for Rare Neuromuscular Disorders (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Limb Girdle Muscular Dystrophies, Genetics Department, Integrated Laboratory Medicine, Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; and Neuromuscular Diseases Unit, Neurology Department, Hospital Germans Tries I Pujol (E.J.-M.), Badalona, Spain.
Jose Verdu-DiazFrom the John Walton Muscular Dystrophy Research Centre (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Translational and Clinical Research Institute, Newcastle University, UK; Highly Specialized Service for Rare Neuromuscular Disorders (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Limb Girdle Muscular Dystrophies, Genetics Department, Integrated Laboratory Medicine, Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; and Neuromuscular Diseases Unit, Neurology Department, Hospital Germans Tries I Pujol (E.J.-M.), Badalona, Spain.ORCID https://orcid.org/0000-0001-5631-0030
Anna MayhewFrom the John Walton Muscular Dystrophy Research Centre (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Translational and Clinical Research Institute, Newcastle University, UK; Highly Specialized Service for Rare Neuromuscular Disorders (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Limb Girdle Muscular Dystrophies, Genetics Department, Integrated Laboratory Medicine, Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; and Neuromuscular Diseases Unit, Neurology Department, Hospital Germans Tries I Pujol (E.J.-M.), Badalona, Spain.
Michela GuglieriFrom the John Walton Muscular Dystrophy Research Centre (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Translational and Clinical Research Institute, Newcastle University, UK; Highly Specialized Service for Rare Neuromuscular Disorders (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Limb Girdle Muscular Dystrophies, Genetics Department, Integrated Laboratory Medicine, Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; and Neuromuscular Diseases Unit, Neurology Department, Hospital Germans Tries I Pujol (E.J.-M.), Badalona, Spain.
Volker StraubFrom the John Walton Muscular Dystrophy Research Centre (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Translational and Clinical Research Institute, Newcastle University, UK; Highly Specialized Service for Rare Neuromuscular Disorders (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Limb Girdle Muscular Dystrophies, Genetics Department, Integrated Laboratory Medicine, Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; and Neuromuscular Diseases Unit, Neurology Department, Hospital Germans Tries I Pujol (E.J.-M.), Badalona, Spain.ORCID https://orcid.org/0000-0001-9046-3540
Meredith K JamesFrom the John Walton Muscular Dystrophy Research Centre (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Translational and Clinical Research Institute, Newcastle University, UK; Highly Specialized Service for Rare Neuromuscular Disorders (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Limb Girdle Muscular Dystrophies, Genetics Department, Integrated Laboratory Medicine, Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; and Neuromuscular Diseases Unit, Neurology Department, Hospital Germans Tries I Pujol (E.J.-M.), Badalona, Spain.ORCID https://orcid.org/0000-0001-8078-7744
Chiara Marini-BettoloFrom the John Walton Muscular Dystrophy Research Centre (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Translational and Clinical Research Institute, Newcastle University, UK; Highly Specialized Service for Rare Neuromuscular Disorders (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Limb Girdle Muscular Dystrophies, Genetics Department, Integrated Laboratory Medicine, Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; and Neuromuscular Diseases Unit, Neurology Department, Hospital Germans Tries I Pujol (E.J.-M.), Badalona, Spain.
Jordi Diaz-ManeraFrom the John Walton Muscular Dystrophy Research Centre (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Translational and Clinical Research Institute, Newcastle University, UK; Highly Specialized Service for Rare Neuromuscular Disorders (R.M.-L., M.S., D.M., M.E., J.M.-S., E.H., M. McCallum, U.M., M.R., C.T., K.W., M. Malinova, C.B.-D., M.J.K., E.G., J.V.-D., A.M., M.G., V.S., M.K.J., C.M.-B., J.D.-M.), Limb Girdle Muscular Dystrophies, Genetics Department, Integrated Laboratory Medicine, Newcastle Upon Tyne Hospitals NHS Foundation Trust, United Kingdom; and Neuromuscular Diseases Unit, Neurology Department, Hospital Germans Tries I Pujol (E.J.-M.), Badalona, Spain.
Newcastle upon Tyne Hospitals NHS Foundation Trust · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background and Objectives: The prevalence and progression of respiratory muscle dysfunction in patients with limb girdle muscular dystrophies (LGMDs) has been only partially described to date. Most reports include cross-sectional data on a limited number of patients making it difficult to gain a wider perspective on respiratory involvement throughout the course of the disease and to compare the most prevalent LGMD subtypes. Methods: We reviewed the results of spirometry studies collected longitudinally in our cohort of patients in routine clinical visits from 2002 to 2020 along with additional clinical and genetic data. A linear mixed model was used to investigate the factors associated with the progression of respiratory dysfunction. Results: We followed up 156 patients with 5 different forms of LGMDs for a median of 8 years (range 1-25 years). Of them, 53 patients had pathogenic variants in the Discussion: Respiratory dysfunction is a frequent complication of patients with LGMDs that needs to be carefully studied and has direct implications in the care offered in daily clinics. Respiratory dysfunction is associated with disease progression because it is especially seen in patients who are full-time wheelchair users, being more frequent in patients with mutations in the

Identifiers

PMID37440793
PMCPMC10335843
OpenAlexW4383874038

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.