Amish, Mennonite, and Hutterite
Genetic Disorder Database

Cardiomyopathy, dilated, with AV block

Disorder
OMIM #: #115200  (Click to access OMIM database)
Disorder: Cardiomyopathy, dilated, with AV block 
Also known as: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1
CDCD1, CARDIOMYOPATHY, IDIOPATHIC DILATED, CARDIOMYOPATHY, FAMILIAL IDIOPATHIC, CARDIOMYOPATHY, CONGESTIVE 
Clinical
Phenotype: cardiomyopathy dilated, arrhythmia / abnormal EKG 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: LMNA
Base Change: C>T, at nucleotide 568
Amino Acid Change: arg 190 --> trp
Last updated: 2019-02-04 

References
Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36.
PubMed ID: 19630565 

Back