CMT 1
W
View full entry on WUSTL Neuromuscular
time/hmsn.html#CMT 1
150
Overview
From WUSTL Neuromuscular● Epidemiology: 2 patients, 1 family Genetics Mutation: K28I (c.83A>T) Allelic disorder: CMT-DI c1orf194 protein Calcium regulator in neurons Clinical Onset age: 6 & 40 years Weakness Arms & Legs Distal Gait: Steppage Course: Progressive Sensory loss Distal Arms Modalities: Large & Small fiber Tendon reflexes: Absent in Legs Pes cavus Laboratory Nerve conduction Velocities: Demyelinating; Velocity 11 M/s SNAPs: Absent c1orf194 variant: CMT-DI Epidemiology: 6 patients. 1 family Genetics Mutation: I122N (c.365T>A) Inheritance: Dominant Clinical Onset age: 20 to 33 years Weakness Distal Legs Gait
OMIM Entries
Related Conditions
Shared genesExternal Resources
Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.