ArticleMuscle & nerve2016
Muscle magnetic resonance imaging in congenital myasthenic syndromes.
Article in Muscle & nerve, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06630650 (A Single Center Prospective Natural History and Outcome Measure Validation Study of Congenital Myasthenic Syndromes), which is not on this map. Cited by 17 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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.
A Single Center Prospective Natural History and Outcome Measure Validation Study of Congenital Myasthenic Syndromes
Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Congenital myasthenic syndromes.Orphanet journal of rare diseases · 2019Pooled it
- Myo-Guide: A Machine Learning-Based Web Application for Neuromuscular Disease Diagnosis With MRI.Journal of cachexia, sarcopenia and muscle · 2025Article
- A cohort of GFPT1 related congenital myasthenic syndrome in China: high frequency of c.331 c > t variant.Orphanet journal of rare diseases · 2025Article
- Expanding the phenotypic and imaging spectrum ofFrontiers in neurology · 2025Article
- Usefulness and Clinical Impact of Whole-Body MRI in Detecting Autoimmune Neuromuscular Disorders.Brain sciences · 2023Review
- Eye Muscle MRI in Myasthenia Gravis and Other Neuromuscular Disorders.Journal of neuromuscular diseases · 2023Article
- Dystrophic Myopathy of the Diaphragm with Recurrent Severe Respiratory Failure is Congenital Myasthenic Syndrome 11.Journal of neuromuscular diseases · 2023Article
- A prospective study of MRI biomarkers in the brain and lower limb muscles for prediction of lower limb motor recovery following stroke.Frontiers in neurology · 2023Article
- Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation.Brain and behavior · 2022Article
- Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI.Journal of neuromuscular diseases · 2021Article
- Skeletal muscle MRI differentiates SBMA and ALS and correlates with disease severity.Neurology · 2019Article
- Italian recommendations for diagnosis and management of congenital myasthenic syndromes.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2019Article
- [Congenital myasthenic syndromes in adulthood : Challenging, rare but treatable].Der Nervenarzt · 2019Review
- GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice.Human molecular genetics · 2018Article
- Congenital Myasthenic Syndrome due toEuropean journal of translational myology · 2017Article
- Clinical features of the myasthenic syndrome arising from mutations in GMPPB.Journal of neurology, neurosurgery, and psychiatry · 2016Article
- Design and test of a double-nuclear RF coil for (1)H MRI and (13)C MRSI at 7T.Journal of magnetic resonance (San Diego, Calif. : 1997) · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 6 institutions in 1 country.
Funding
Abstract
introductionIn this study we investigated muscle magnetic resonance imaging in congenital myasthenic syndromes (CMS).
methodsTwenty-six patients with 9 CMS subtypes and 10 controls were imaged. T1-weighted (T1w) and short-tau inversion recovery (STIR) 3-Tesla MRI images obtained at thigh and calf levels were scored for severity.
resultsOverall mean the T1w score was increased in GFPT1 and DPAGT1 CMS. T1w scans of the AChR-deficiency, COLQ, and CHAT subjects were indistinguishable from controls. STIR images from CMS patients did not differ significantly from those of controls. Mean T1w score correlated with age in the CMS cohort.
conclusionsMRI appearances ranged from normal to marked abnormality. T1w images seem to be especially abnormal in some CMS caused by mutations of proteins involved in the glycosylation pathway. A non-selective pattern of fat infiltration or a normal-appearing scan in the setting of significant clinical weakness should suggest CMS as a potential diagnosis. Muscle MRI could play a role in differentiating CMS subtypes. Muscle Nerve 54: 211-219, 2016.
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Registered trials
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.