A Patient With Charcot-Marie-Tooth Disease Type 4C (CMT4C) Presenting With Muscle Fasciculations and Motor Neuropathy

Author:

Peddareddygari Leema Reddy,Grewal Raji P

Publisher

Springer Science and Business Media LLC

Reference17 articles.

1. Hereditary motor sensory neuropathies (HMSN; CMT). (2023). Accessed. March 31, 2024: https://neuromuscular.wustl.edu/time/hmsn.html.

2. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy;Lupski JR;N Engl J Med,2010

3. Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients;Volodarsky M;J Med Genet,2021

4. Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2;Colomer J;Neuromuscul Disord,2006

5. Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4);Piscosquito G;J Peripher Nerv Syst,2016

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