Charcot Marie Tooth disease type 4 (CMT4): genetic subtypes
Evidence-based neurology checklist on charcot marie tooth disease type 4 (cmt4): genetic subtypes: CMT4A This is caused by mutations in the GDAP1 gene on chromosome 8q It is the most frequent form of CMT4 CMT4B1 CMT4B2 CMT4B3 CMT4C CMT4D CMT4E CMT4F CMT4G CMT4H CMT4I CMT4J SCO2 mutation Acronyms
CMT4A
- This is caused by mutations in the GDAP1 gene on chromosome 8q
- It is the most frequent form of CMT4
CMT4B1
CMT4B2
CMT4B3
CMT4C
CMT4D
CMT4E
CMT4F
CMT4G
CMT4H
CMT4I
CMT4J
SCO2 mutation
Acronyms
References
- Claramunt R, Pedrola L, Sevilla T, et al. Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. J Med Genet 2005; 42:358-365.
- Reilly MM, Shy ME. Diagnosis and new treatments in genetic neuropathies. JNNP 2009; 80:1304–1314.
- Sevilla T, Cuesta A, Chumillas MJ, et al. Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene. Brain 2003; 126:2023-2033.
- Sevilla T, Jaijo T, Nauffal D, et al. Vocal cord paresis and diaphragmatic dysfunction were effete and frequent symptoms of GDAP1-associated neuropathy. Brain 2008; 131:3051-3061.
- Martin AM, Maradei SJ, Velasco HM. Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a Colombian family. Colomb Med (Cali) 2015; 46:194-198.
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