Charcot-Marie-Tooth disease type 2A1 (hereditary motor sensory neuropathy 2A1, CMT2A1)
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Pathology
- axonal degeneration without obvious myelin alterations
Genetics
- autosomal dominant
- kif1B gene
- MFN2 gene
Clinical manifestations
- slowly progressive distal muscle atrophy & weakness
- absent deep tendon reflexes
- hollow feet
Diagnostic procedures
- normal or slightly reduced reduced nerve conduction velocity
More general terms
References
- ↑ Zhao C et al Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. Cell 105:587-97 2001 PMID: https://www.ncbi.nlm.nih.gov/pubmed/11389829
- ↑ UniProt http://www.uniprot.org/uniprot/O95140.html