Amish, Mennonite, and Hutterite
Genetic Disorder Database

Charcot-Marie-Tooth disease type 4C

Disorder
OMIM #: #601596  (Click to access OMIM database)
Disorder: Charcot-Marie-Tooth disease type 4C 
Also known as: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4C CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4C 
Clinical
Phenotype: peripheral neuropathy, distal motor and sensory impairment, gait difficulties, foot deformities 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Old Order Mennonite  
Gene: SH3TC2
Base Change: C>T, at nucleotide 2860
Amino Acid Change:
Last updated: 2019-07-04 

References
Personal communication; seen at CSC.  

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