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- Kim, Ye Jin, et al. Show all 8 Authors
- Genes & genomics 2015 v.37 no.3 pp. 295-303
- genes; heat shock proteins; mutation; peripheral nervous system diseases; phenotype; sequence analysis
- ... Charcot–Marie–Tooth disease (CMT) is a group of clinically and genetically heterogeneous peripheral neuropathies. We identified two axonal CMT type 2F (CMT2F) families presented with distally predominant weakness in upper and lower extremities with sensory involvement. This study identified a c.404C>T (p.Ser135Phe) mutation in HSPB1 gene as the underlying cause of the both families by applying of ...
- Kim, Ye Jin, et al. Show all 6 Authors
- Genes & genomics 2012 v.34 no.6 pp. 653-661
- databases; disease prevalence; genes; guanosinetriphosphatase; human diseases; mitochondria; mutation; nationalities and ethnic groups; patients; peripheral nervous system diseases; phenotype; reproduction
- ... Charcot-Marie-Tooth disease type 2A (CMT2A) is one of the subdivisions of CMT2, an axonal defective form of peripheral neuropathy. Different mutations in the mitochondrial GTPase mitofusin 2 (MFN2) gene produce various degrees of severity of CMT2A phenotype or CMT2A related hereditary motor and sensory neuropathy VI (HMSN VI). The occurrence of de novo mutations in MFN2 is by far the most frequent ...