ArticleRespiratory medicine case reports2025
Charcot-Marie-Tooth disease: A case report initially manifested by bilateral vocal cord paralysis.
Article in Respiratory medicine case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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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.
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Who cites it
1 citing paper in PubMed.
- A Case Report and Literature Review of Charcot-Marie-Tooth Disease Type 2F in a Family.Degenerative neurological and neuromuscular disease · 2025Article
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Charcot-Marie-Tooth is an inherited disorder involving multiple genes, causing progressive nerve damage affecting sensation and movement. The complexity of the condition often leads to various possible diagnoses along with neuropathic diseases, sometimes resulting in significant delays in diagnosis and treatment. Thorough clinical examinations, suspicion based on symptoms, electromyography, nerve conduction tests, and specific genomic testing can expedite diagnosis. Here, we will introduce a case of Charcot-Marie-Tooth disorder, initially presenting with stridor and hoarseness due to vocal cord paralysis, later progressing to atrophy and deformity of the limbs. Diagnosis was confirmed through whole genome sequencing, revealing mutations in genes associated with the disorder.
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Registered trials
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