Amish, Mennonite, and Hutterite
Genetic Disorder Database

Duchenne muscular dystrophy

Disorder
OMIM #: #310200  (Click to access OMIM database)
Disorder: Duchenne muscular dystrophy 
Also known as: MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE TYPE  
Clinical
Phenotype: progressive proximal muscular dystrophy, pseudohypertrophy of the calves, elevated serum creatine kinase, myopathic changes by electromyography, myofiber degeneration with fibrosis, fatty infiltration on muscle biopsy 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: DMD
Base Change: del.T, at nucleotide 5972
Amino Acid Change:
2   Old Order Mennonite  
Gene: DMD
Base Change: C>T, at nucleotide 5353
Amino Acid Change:
Last updated: 2019-07-03 

References
Personal communication; seen at CSC.  

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