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Charcot-Marie-Tooth disease type 2A1 (hereditary motor sensory neuropathy 2A1, CMT2A1)
Pathology:
- axonal degeneration without obvious myelin alterations
Genetics:
1) autosomal dominant
2) kif1B gene
3) MFN2 gene
Clinical manifestations:
1) slowly progressive distal muscle atrophy & weakness
2) absent deep tendon reflexes
3) hollow feet
Special laboratory:
- normal or slightly reduced reduced nerve conduction velocity
Database Correlations
OMIM correlations
MORBIDMAP 605995
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: 11389829
- UniProt :accession O95140