ArticleMuscle & nerve2018
Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges.
Article in Muscle & nerve, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 23 citations in OpenAlex.
- Unraveling the Overlapping Spectrum of Hereditary Neuropathies: Clinical and Genetic Insights From the UAE.Cureus · 2025Article
- Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene-Related Demyelinating Peripheral Neuropathy.European journal of neurology · 2025Observational
- Bilateral Sensorineural Hearing Loss in a Patient with Primary Ciliary Dyskinesia and Concomitant SH3TC2 Gene Mutation.Journal of clinical medicine · 2025Article
- Charcot-Marie-Tooth Disease Type 4C and Autosomal Dominant Heterozygous Ichthyosis Vulgaris, with Bilateral Hearing Loss: A Novel Association with Review of Literature.Journal of pediatric genetics · 2024Article
- AAV1.tMCK.NT-3 gene therapy improves phenotype inBrain communications · 2024Article
- Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.Brain : a journal of neurology · 2023Article
- Canine models of Charcot-Marie-Tooth: MTMR2, MPZ, and SH3TC2 variants in golden retrievers with congenital hypomyelinating polyneuropathy.Neuromuscular disorders : NMD · 2023Article
- Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.Journal of neurology, neurosurgery, and psychiatry · 2021Article
- Characteristics of Clinical and Electrophysiological Pattern in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth 4C.Frontiers in neurology · 2021Article
- Genetic Spectrum of Inherited Neuropathies in India.Annals of Indian Academy of NeurologyArticle
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Authors and funding
10 authors at 6 institutions in 2 countries.
Funding
Abstract
introductionThis study analyzes and describes atypical presentations of Charcot-Marie-Tooth disease type 4C (CMT4C).
methodsWe present clinical and physiologic features of 5 patients with CMT4C caused by biallelic private mutations of SH3TC2.
resultsAll patients manifested scoliosis, and nerve conduction study indicated results in the demyelinating range. All patients exhibited signs of motor impairment within the first years of life. We describe 2 or more different genetic diseases in the same patient, atypical presentations of CMT, and 3 new mutations in CMT4C patients. DISCUSSION: A new era of unbiased genetic testing has led to this small case series of individuals with CMT4C and highlights the recognition of different genetic diseases in CMT4C patients for accurate diagnosis, genetic risk identification, and therapeutic intervention. The phenotype of CMT4C, in addition, appears to be enriched by a number of features unusual for the broad CMT category. Muscle Nerve 57: 749-755, 2018.
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