Identification and clinical characterization of Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S mutation
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,Biochemistry
Link
https://link.springer.com/content/pdf/10.1007/s13258-022-01253-w.pdf
Reference29 articles.
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2. Ciotti P, Luigetti M, Geroldi A, Capponi S, Pezzini I, Gulli R, Pazzaglia C, Padua L, Massa R, Mandich P et al (2014) A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease. J Neurol Sci 343:183–186
3. Cornett KMD, Wojciechowski E, Sman AD, Walker T, Menezes MP, Bray P, Halaki M, Burns J, Group FS (2019) Magnetic resonance imaging of the anterior compartment of the lower leg is a biomarker for weakness, disability, and impaired gait in childhood Charcot-Marie-Tooth disease. Muscle Nerve 59:213–217
4. Dahlqvist JR, Widholm P, Leinhard OD, Vissing J (2020) MRI in neuromuscular diseases: an emerging diagnostic tool and biomarker for prognosis and efficacy. Ann Neurol 88:669–681
5. Gallardo E, Garcia A, Combarros O, Berciano J (2006) Charcot-Marie-Tooth disease type 1A duplication: spectrum of clinical and magnetic resonance imaging features in leg and foot muscles. Brain 129:426–437
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