ArticleJournal of neurology2008
Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation.
Article in Journal of neurology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 43 citations in OpenAlex.
- Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.Journal of neurology · 2017Pooled it
- Muscle-Specific DNM2 Overexpression Improves Charcot-Marie-Tooth Disease In Vivo and Reveals a Narrow Therapeutic Window in Skeletal Muscle.International journal of molecular sciences · 2026Article
- Article
- Evaluation of normalized T1 signal intensity obtained using an automated segmentation model in lower leg MRI as a potential imaging biomarker in Charcot-Marie-Tooth disease type 1 A.Scientific reports · 2025Article
- Efficient data labeling strategies for automated muscle segmentation in lower leg MRIs of Charcot-Marie-Tooth disease patients.PloS one · 2024Article
- Genetic etiology of progressive pediatric neurological disorders.Pediatric research · 2024Article
- Quantified fat fraction as biomarker assessing disease severity in rare Charcot-Marie-Tooth subtypes.Frontiers in neurology · 2023Article
- Skeletal Muscle Involvement Pattern of Hereditary Transthyretin Amyloidosis: A Study Based on Muscle MRI.Frontiers in neurology · 2022Article
- A new mutation in DNM2 gene in a large Italian family.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Review
- Panorama of the distal myopathies.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2020Review
- Diffusion tensor imaging of the sciatic nerve in Charcot-Marie-Tooth disease type I patients: a prospective case-control study.European radiology · 2019Article
- Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila.Human molecular genetics · 2016Article
- Advances in imaging ultrastructure yield new insights into presynaptic biology.Frontiers in cellular neuroscience · 2015Review
- Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.BioMed research international · 2014Article
- Charcot-Marie-Tooth disease and intracellular traffic.Progress in neurobiology · 2012Review
- Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.Human mutation · 2012Article
- MRI findings, patterns of disease distribution, and muscle fat fraction calculation in five patients with Charcot-Marie-Tooth type 2 F disease.Skeletal radiology · 2012Article
- Dynamin 2 and human diseases.Journal of molecular medicine (Berlin, Germany) · 2010Review
- Charcot–Marie–Tooth disease type 2J with MPZ Thr124Met mutation: clinico-electrophysiological and MRI study of a family.Journal of neurology · 2009Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The purpose of the study was to prospectively assess magnetic resonance (MR) imaging findings of lower limb musculature in an axonal Charcot-Marie-Tooth disease (CMT2) pedigree due to mutation in the dynamin 2 gene (DNM2). The series comprises a proband patient aged 55 years and her two affected daughters aged 32 and 23. MR imaging study included T1- and fat suppressed T2-weighted spin-echo sequences. MR imaging study showed extensive fatty infiltration of all calf muscle compartments with relative preservation of the deep posterior one. Fatty muscle infiltration increased distally in 19 out of 66 (23%) visualized calf muscles in the three patients, but this percentage increased to 64% in the youngest and least severe patient. Muscle edema without contrast enhancement was present in 23% of calf muscles. There was massive fatty atrophy of foot musculature. We conclude that MR imaging study accurately depicts lower limb muscle involvement in CMT2 caused by DNM2 mutation.
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