Amish, Mennonite, and Hutterite
Genetic Disorder Database

Myotonic dystrophy-1

Disorder
OMIM #: #160900  (Click to access OMIM database)
Disorder: Myotonic dystrophy-1 
Also known as: DYSTROPHIA MYOTONICA 1 DYSTROPHIA MYOTONICA
DM STEINERT DISEASE 
Clinical
Phenotype: myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, ECG changes 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: DMPK, 3' region
Base Change: (CTG)n repeat expansion
Amino Acid Change:
Last updated: 2019-07-03 

References
Personal communication; seen at CSC.  

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