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Charcot-Marie-Tooth disease type 2L (CMT2L)
see Charcot-Marie-Tooth disease type 2
Pathology:
- signs of axonal regeneration in the absence of obvious myelin alterations
Genetics:
- associated with defects in HSPB8
Clinical manifestations:
- progressive distal muscle weakness & atrophy
Special laboratory:
- nerve conduction velocity
- normal or slightly reduced nerve conduction velocity
Database Correlations
OMIM 608673
References
OMIM :accession 608673