Genetic mutation linked to muscle weakness in Dutch Shepherd dogs

Takeaway

  • Transport activity of mitochondrial aspartate-glutamate carrier 1 (AGC1) is defective in Dutch Shepherd dogs with early onset progressive muscle weakness and is associated with proinflammatory milieu and strong oxidative stress.

Why this matters

  • Identifying metabolic disturbances associated with mutation variants may increase current knowledge of inflammatory myopathy etiologies and underlying mitochondrial disorders.

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