Center for Inherited Myology Research

Johnson Lab

Myotonic dystrophy, limb-girdle muscular dystrophies

In the translational research lab of Nicholas Johnson, M.D., researchers aim to identify genetic markers across muscular dystrophies and develop clinical endpoints and patient reported outcomes.

The lab has three primary areas of focus:

1. Investigating the underlying pathomechanism of congenital myotonic dystrophy and how it changes with age
2. Identifying genetic modifiers of disease severity in myotonic dystrophy
3. Developing biomarkers for therapeutic trials in myotonic dystrophy and limb girdle muscular dystrophy.

Recent Publications

• RNA mis-splicing in children with congenital myotonic dystrophy is associated with physical function
• Dynamics and variability of transcriptomic dysregulation in congenital myotonic dystrophy during pediatric development
• Population based prevalence of myotonic dystrophy type 1 using genetic analysis of a state-wide blood screening program

Contact Us

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Lab Members