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Charcot-Marie-Tooth disease type 2P (CMT2P)
see Charcot-Marie-Tooth disease type 2
Pathology:
- signs of axonal degeneration in the absence of obvious myelin alterations
Genetics:
- associated with defects in LRSAM1
Clinical manifestations:
- progressive distal muscle weakness & atrophy
- initially of the involves the peroneal muscles
- later involves the distal muscles of the arms
Special laboratory:
- nerve conduction velocity
- normal or slightly reduced nerve conduction velocity
Database Correlations
OMIM 614436
References
OMIM :accession 614436