(A) The basic organization of a sarcomere subregion, showing the centralized location of myosin (A band). Actin and the z discs are shown in red. (B) A conceptual diagram representing the ...

Nemaline myopathy is associated with defects in sarcomere structure and function. We are investigating disease progression and performing screens to identify novel therapeutics for these diseases.

Numerous motor and structural proteins compose a highly ordered structure known as the sarcomere, the basic unit of muscle contraction in heart and skeletal muscles. Sarcomeric myosin heavy chain ...