Bioenergetic Impairment in Congenital Muscular Dystrophy Type 1A and Leigh Syndrome Muscle Cells

@inproceedings{FontesOliveira2017BioenergeticII,
  title={Bioenergetic Impairment in Congenital Muscular Dystrophy Type 1A and Leigh Syndrome Muscle Cells},
  author={Cibely Cristine Fontes-Oliveira and Maarten Steinz and Peter Schneiderat and Hindrik Mulder and Madeleine Durbeej},
  booktitle={Scientific reports},
  year={2017}
}
Skeletal muscle has high energy requirement and alterations in metabolism are associated with pathological conditions causing muscle wasting and impaired regeneration. Congenital muscular dystrophy type 1A (MDC1A) is a severe muscle disorder caused by mutations in the LAMA2 gene. Leigh syndrome (LS) is a neurometabolic disease caused by mutations in genes related to mitochondrial function. Skeletal muscle is severely affected in both diseases and a common feature is muscle weakness that leads… CONTINUE READING
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