Amish, Mennonite, and Hutterite
Genetic Disorder Database

Familial Cortical Myoclonus

Disorder
OMIM #: #614937  (Click to access OMIM database)
Disorder: Familial Cortical Myoclonus 
Also known as: FAME
familial cortical myoclonic tremor with epilepsy 
Clinical
Phenotype: progressive myoclonus 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Unknown / Other Mennonite  
Gene: NOL3
Base Change: E21Q
Amino Acid Change:
Last updated: 2013-01-21 

References
Russell JF, Steckley JL, Coppola G, Hahn AFG, Howard MA, Kornberg Z, Huang A, Mirsattari SM, Merriman B, Klein E, Choi M, Lee HY, Kirk A, Nelson-Williams C, Gibson G, Baraban SC, Lifton RP, Geschwind DH, Fu YH, Ptacek LJ. (2012) Familial cortical myoclonus with a mutation in NOL3. Ann. Neurol 72: 175-183.
PubMed ID: 2292685 

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