Charcot Marie Tooth disease 1A (CMT1A)
Evidence-based neurology checklist on charcot marie tooth disease 1a (cmt1a): Genetics This is caused by duplication or point mutations of the PMP22 gene on chromosome 17 The gene dosage correlates with phenotype Main neurological features Other neurological features Abnormal gait patterns Overlap…
Genetics
- This is caused by duplication or point mutations of the PMP22 gene on chromosome 17
- The gene dosage correlates with phenotype
Main neurological features
Other neurological features
Abnormal gait patterns
Overlap features
Acronym
References
- Amato AA, Russell JA. Neuromuscular disorders. McGraw Hill New York 2008 Chapter 9.
- Nicolau P, Christodoulou K. Advances in the molecular diagnosis of Charcot-Marie-Tooth disease. World J Neurol 2013; 3:42-55.
- Chanson JP, Echaniz-Lugan A, Blanco F, et al. Central nervous system abnormalities in patients with PMP22 gene mutations: a prospective study. JNNP 2013; 84:392-397.
- Boentert M, Knop K, Schumacher Charcot, Gess Be, Okegwo A, Young P. Sleep disorders in Charcot-Marie-Tooth disease type 1. JNNP 2014; 85:319-325.
- Rossor AM, Murphy S, Reilly MM. Knee bobbing in Charcot-Marie-Tooth disease. Pract Neurol 2012; 12:182-183.
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