Distinct Phenotypic and microRNA Expression in X-Linked Charcot–Marie–Tooth Correlated with a Novel Mutation in the GJB1 Gene
Abstract
:1. Introduction
2. Results
2.1. Clinical Features and Family Pedigree
2.1.1. Family Pedigree
2.1.2. Patient 1: Clinical Features and Medical Examination
2.1.3. Patient 2: Clinical Features and Medical Examination
2.2. Genetic Analyses
2.3. Circulating miR-206
2.4. Quality of Life in the Two Brothers
3. Discussion and Conclusions
4. Materials and Methods
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Pegoraro, V.; Sabbatini, D.; Salviati, L.; Angelini, C. Distinct Phenotypic and microRNA Expression in X-Linked Charcot–Marie–Tooth Correlated with a Novel Mutation in the GJB1 Gene. Muscles 2022, 1, 66-74. https://0-doi-org.brum.beds.ac.uk/10.3390/muscles1010007
Pegoraro V, Sabbatini D, Salviati L, Angelini C. Distinct Phenotypic and microRNA Expression in X-Linked Charcot–Marie–Tooth Correlated with a Novel Mutation in the GJB1 Gene. Muscles. 2022; 1(1):66-74. https://0-doi-org.brum.beds.ac.uk/10.3390/muscles1010007
Chicago/Turabian StylePegoraro, Valentina, Daniele Sabbatini, Leonardo Salviati, and Corrado Angelini. 2022. "Distinct Phenotypic and microRNA Expression in X-Linked Charcot–Marie–Tooth Correlated with a Novel Mutation in the GJB1 Gene" Muscles 1, no. 1: 66-74. https://0-doi-org.brum.beds.ac.uk/10.3390/muscles1010007