ReviewNeuromuscular disorders : NMD2017
Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature.
Review in Neuromuscular disorders : NMD, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- Surgical Management of Bilateral Vocal Fold Paralysis in Children: A Systematic Review and Meta-analysis.Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2021Pooled it
- EIF2AK2-related hypomyelinating leukoencephalopathy presenting with congenital bilateral vocal cord paralysis and a spinal cord lesion.Neurogenetics · 2026Article
- Inherited Peripheral Neuropathies.Neurologic clinics · 2025Review
- Clinical characteristics and treatment for laryngeal cyst in children: a case series study.Frontiers in surgery · 2025Article
- Expanding the genetic spectrum of hereditary motor sensory neuropathies in Pakistan.BMC neurology · 2024Article
- Noninvasive ventilation and laser-assisted unilateral posterior cordotomy as novel multidisciplinary approaches for Charcot-Marie-Tooth disease 4B vocal cord paralysis: a case report.Journal of medical case reports · 2024Article
- Reovirus infection induces transcriptome-wide unique A-to-I editing changes in the murine fibroblasts.Virus research · 2024Article
- Identification of a Novel Homozygous Mutation inThe application of clinical genetics · 2024Article
- Homozygous Mutations inDNA and cell biology · 2023Article
- Canine models of Charcot-Marie-Tooth: MTMR2, MPZ, and SH3TC2 variants in golden retrievers with congenital hypomyelinating polyneuropathy.Neuromuscular disorders : NMD · 2023Article
- Recognising the potential of large animals for modelling neuromuscular junction physiology and disease.Journal of anatomy · 2022Review
- Pathological evidence of demyelination in the recurrent laryngeal, phrenic, and oculomotor nerves in Charcot-Marie-Tooth disease 4F.eNeurologicalSci · 2021Article
- Novel homozygous mutations in Pakistani families with Charcot-Marie-Tooth disease.BMC medical genomics · 2021Article
- Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report.Neurogenetics · 2020Article
- First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.European journal of human genetics : EJHG · 2020Article
- A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).Annals of neurology · 2019Article
- Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due toFrontiers in neuroscience · 2019Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
Charcot-Marie-Tooth type 4B1 (CMT4B1) is an autosomal recessive motor and sensory demyelinating neuropathy characterized by the association of early-onset neurological symptoms and typical histological findings. The natural history and the clinical variability of the disease are still poorly known, thus further clarification of the different phenotypes is needed. We report on the case of a Pakistani girl born to consanguineous parents harboring a novel mutation in the MTMR2 gene. When aged 18 months, reduced limb tone, muscle wasting associated with proximal and distal weakness prevalent in lower limbs, absence of tendon reflexes, hoarseness and inspiratory stridor were detected. Vocal cord palsy was diagnosed shortly after. We suggest that laryngeal involvement might be a relevant and initial feature of early-onset CMT4B1 neuropathy. Thus, affected patients should undergo early laryngological evaluation in order to prompt an appropriate management.
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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.