Search
Charcot-Marie-Tooth disease type 4B1 (CMT4B1)
Also see Charcot-Marie-Tooth disease
Pathology:
- demyelinating
- segmental demyelination & remyelination with onion bulb formations on nerve biopsy
Genetics:
- autosomal recessive
- associated with defects in MTMR2
Clinical manifestations:
- severe form of Charcot-Marie-Tooth disease
- slowly progressive distal muscle atrophy & weakness
- absent deep tendon reflexes
- hollow feet
Special laboratory:
- nerve conduction studies; severely reduced nerve conduction velocities (<38 m/sec)
Database Correlations
OMIM 601382
References
OMIM :accession 601382