Identification and clinical characterization of Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S mutation-Reference-Cited by-同舟云学术

Identification and clinical characterization of Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S mutation

Published:2022-05-24 Issue:8 Volume:44 Page:1007-1016
ISSN:1976-9571
Container-title:Genes & Genomics
language:en
Short-container-title:Genes Genom

Author:

Park Jaehong,Kim Hyun Su^ORCID,Kwon Hye Mi^ORCID,kim Jiah,Nam Soo Hyun^ORCID,Jung Na Young,Lee Ah Jin,Jung Young Hee,Kim Sang Beom^ORCID,Chung Ki Wha^ORCID,Choi Byung-Ok^ORCID

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.

1. Bennett CL, Shirk AJ, Huynh HM, Street VA, Nelis E, Van Maldergem L, De Jonghe P, Jordanova A, Guergueltcheva V, Tournev I, Van den Bergh P, Seeman P, Mazanec R, Prochazka T, Kremensky I, Haberlova J, Weiss MD, Timmerman V, Bird TD, Chance PF (2004) SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve. Ann Neurol 55:713–720. https://doi.org/10.1002/ana.20094

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

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Current Treatment Methods for Charcot–Marie–Tooth Diseases;Biomolecules;2024-09-09

2. Efficient data labeling strategies for automated muscle segmentation in lower leg MRIs of Charcot-Marie-Tooth disease patients;PLOS ONE;2024-09-06

3. INF2 mutations in patients with a broad phenotypic spectrum of Charcot‐Marie‐Tooth disease and focal segmental glomerulosclerosis;Journal of the Peripheral Nervous System;2023-01-20

4. Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients;Genes;2022-07-08