Article
Aberrations in Energetic Metabolism and Stress-Related Pathways Contribute to Pathophysiology in the Neb Conditional Knockout Mouse Model of Nemaline Myopathy.
The American journal of pathology - 1 Oct 2023
Slick Rebecca A, Tinklenberg Jennifer A, Sutton Jessica, Zhang Liwen, Meng Hui, Beatka Margaret J, Vanden Avond Mark, Prom Mariah J, Ott Emily, Montanaro Federica, Heisner James, Toro Rafael, Granzier Henk, Geurts Aron M, Stowe David F, Hill R Blake, Lawlor Michael W
Abstract excerpt
Nemaline myopathy (NM) is a genetically and clinically heterogeneous disease that is diagnosed on the basis of the presence of nemaline rods on skeletal muscle biopsy. Although NM has typically been classified by causative genes, disease severity or prognosis cannot be predicted. The common pathologic end point of nemaline rods (despite diverse genetic causes) and an unexplained range of muscle weakness suggest...
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