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Charcot-Marie-Tooth disease type 2A

Disease ID:1271
Name:Charcot-Marie-Tooth disease type 2A
Associated with:1 target
1 immuno-relevant target
Synonyms
CMT2A2B
Description
CMT2A2B is a hereditary motor sensory neuropathy that is characterised by onset of peripheral neuropathy in the first years of life. It is caused by homozygous or compound heterozygous mutation mitofusin 2 (MFN2) gene. Heterozygous MFN2 mutation causes autosomal dominant CMT2A2A which is a less severe disease subtype, with later onset. MFN2 mutations disrupt mitochondrial dynamics.
Database Links
Disease Ontology: DOID:0111557
OMIM: 617087
Orphanet: ORPHA99947

Targets

mitofusin 2
Role:  Mutations in MFN2 underlie defective mitochondrial plasticity in CMT2A axonopathy.
References:  1-3

Ligands

No ligand related data available for Charcot-Marie-Tooth disease type 2A

References

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1. Choi BO, Nakhro K, Park HJ, Hyun YS, Lee JH, Kanwal S, Jung SC, Chung KW. (2015) A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients. Clin. Genet., 87 (6): 594-8. [PMID:24863639]

2. Xie Y, Li X, Liu L, Hu Z, Huang S, Zhan Y, Zi X, Xia K, Tang B, Zhang R. (2016) MFN2-related genetic and clinical features in a cohort of Chinese CMT2 patients. J. Peripher. Nerv. Syst., 21 (1): 38-44. [PMID:26801520]

3. (2018) Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study. J. Peripher. Nerv. Syst., 23 (2): 149-150. [PMID:29906321]