Charcot Marie Tooth disease 1B (CMT1B)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Charcot Marie Tooth disease 1B (CMT1B). This is caused by mutations in the myelin protein zero (MPZ) gene on chromosome 1q.
Genetics
- This is caused by mutations in the myelin protein zero (MPZ) gene on chromosome 1q
- The onset is in the first decade
Clinical features
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Variant features
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Severe phenotypes
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References
- Patzko A, Shy ME. Charcot-Marie-Tooth disease and related genetic neuropathies. Continuum (Minneap Minn) 2012; 18:39-59.
- Nicolau P, Christodoulou K. Advances in the molecular diagnosis of Charcot-Marie-Tooth disease. World J Neurol 2013; 3:42-55.
- Hayasaka K, Himoro M, Sato W, et al. Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. Nat Genet 1993; 5:31-34.
- Reilly MM, Shy ME. Diagnosis and new treatments in genetic neuropathies. JNNP 2009; 80:1304–1314.
- Caress JB, Lewis JA, Pinyan CW, Lawson VH. A Charcot-Marie-Tooth type 1B kindred associated with hemifacial spasm and trigeminal neuralgia. Muscle Nerve 2019; 60:62-66.
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