ArticleSkeletal radiology2012
MRI findings, patterns of disease distribution, and muscle fat fraction calculation in five patients with Charcot-Marie-Tooth type 2 F disease.
Article in Skeletal radiology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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.
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.
Who cites it
22 citing papers in PubMed, 47 citations in OpenAlex.
- Muscle fat infiltration: a narrative review of the magnetic resonance (MR)-based evaluation methods and their clinical applications.Quantitative imaging in medicine and surgery · 2024Review
- Efficient data labeling strategies for automated muscle segmentation in lower leg MRIs of Charcot-Marie-Tooth disease patients.PloS one · 2024Article
- Histopathological correlations and fat replacement imaging patterns in recessive limb-girdle muscular dystrophy type 12.Journal of cachexia, sarcopenia and muscle · 2023Article
- Quantified fat fraction as biomarker assessing disease severity in rare Charcot-Marie-Tooth subtypes.Frontiers in neurology · 2023Article
- Magnetism of materials: theory and practice in magnetic resonance imaging.Insights into imaging · 2021Review
- A split-label design for simultaneous measurements of perfusion in distant slices by pulsed arterial spin labeling.Magnetic resonance in medicine · 2021Article
- Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population.Annals of clinical and translational neurology · 2021Article
- Texture analysis using T1-weighted images for muscles in Charcot-Marie-Tooth disease patients and volunteers.European radiology · 2021Article
- Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations.Annals of clinical and translational neurology · 2021Article
- Small heat shock proteins in neurodegenerative diseases.Cell stress & chaperones · 2020Review
- Muscle fat quantification using magnetic resonance imaging: case-control study of Charcot-Marie-Tooth disease patients and volunteers.Journal of cachexia, sarcopenia and muscle · 2019Observational
- Diffusion tensor imaging of the sciatic nerve in Charcot-Marie-Tooth disease type I patients: a prospective case-control study.European radiology · 2019Article
- Advances in Quantitative Imaging of Genetic and Acquired Myopathies: Clinical Applications and Perspectives.Frontiers in neurology · 2019Review
- Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene.Neuromuscular disorders : NMD · 2017Article
- Chaperonopathies: Spotlight on Hereditary Motor Neuropathies.Frontiers in molecular biosciences · 2016Review
- MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study.The Lancet. Neurology · 2016Observational
- NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype.Journal of neurology · 2015Article
- Distinct disease phases in muscles of facioscapulohumeral dystrophy patients identified by MR detected fat infiltration.PloS one · 2014Article
- Magnetic resonance imaging of pediatric muscular disorders: recent advances and clinical applications.Radiologic clinics of North America · 2013Review
- Muscle fat-fraction and mapping in Duchenne muscular dystrophy: evaluation of disease distribution and correlation with clinical assessments. Preliminary experience.Skeletal radiology · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo describe the magnetic resonance imaging (MRI) pattern of muscle involvement and disease progression in five patients with late-onset Charcot-Marie-Tooth (CMT) disease type 2 F, due to a previously unknown mutation. MATERIALS AND
methodsFive patients (three males, two females) underwent MRI of the lower limbs to define the pattern of muscle involvement and evaluate the muscle fat fraction (MFF) of residual thigh muscle with gradient-echo (GRE) dual-echo dual-flip angle technique. Evaluation of fatty infiltration both by visual inspection and MFF calculation was performed.
resultsA proximal-to-distal gradient of muscle involvement was depicted in male patients with extensive muscle wasting of lower legs, less severe impairment of distal thigh muscles, and sparing of proximal thigh muscles. A peculiar phenotype finding was that no or only slight muscle abnormalities could be found in the two female patients.
conclusionWe described the pattern of muscle involvement and disease progression in a family with CMT disease type 2 F. GRE dual-echo dual-flip angle MRI technique is a valuable technique to obtain a rapid quantification of MFF.
Indexed as
Identifiers
What OpenQuestion holds
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.