Amish, Mennonite, and Hutterite
Genetic Disorder Database

Charcot-Marie-Tooth disease, type 4F

Disorder
OMIM #: #614895  (Click to access OMIM database)
Disorder: Charcot-Marie-Tooth disease, type 4F 
Also known as: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
CMT4F 
Clinical
Phenotype: demyelinating neuropathy, distal sensory impairment, distal muscle weakness, atrophy affecting the lower more than the upper limbs 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Old Order Mennonite  
Gene: PRX
Base Change: T>A, at nucleotide 2145
Amino Acid Change:
Last updated: 2019-07-04 

References
Personal communication; seen at CSC.  

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