Nemaline myopathy type 6

Disease

1 paper2 findings

  • Animals1

Associations

2

NAD+

downin mice1

1 study
  1. Nemaline myopathy type 6 is associated with NAD+ in mice.

    “Multi-omics studies revealed that the TCA cycle is heavily impacted and that NAD+ levels are decreased throughout disease progression.”

    AnimalsDisease progression in homozygous Kbtbd13R408C-knockin mice

    Nicotinamide riboside prevents mitochondrial dysfunction in nemaline myopathy type 6

    Human molecular genetics1 Jan 2026

More on NAD+

Mitochondrial respiration

downin mice1

1 study
  1. Nemaline myopathy type 6 is associated with mitochondrial respiration in mice.

    “Throughout disease progression, NEM6 mice display decreased mitochondrial respiration, impaired metabolic performance and the presence of cores with histoenzymatic reactions.”

    AnimalsNatural history of homozygous Kbtbd13R408C-knockin miceskeletal muscle

    Nicotinamide riboside prevents mitochondrial dysfunction in nemaline myopathy type 6

    Human molecular genetics1 Jan 2026

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