Severe depletion of mitochondrial DNA in spinal muscular atrophy
✍ Scribed by Alexandra Berger; Johannes A. Mayr; David Meierhofer; Ulrike Fötschl; Reginald Bittner; Herbert Budka; Claude Grethen; Michael Huemer; Barbara Kofler; Wolfgang Sperl
- Publisher
- Springer-Verlag
- Year
- 2003
- Tongue
- English
- Weight
- 284 KB
- Volume
- 105
- Category
- Article
- ISSN
- 0001-6322
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## Abstract Mutations of the survival motor neuron (SMN) gene in spinal muscular atrophy (SMA) lead to anterior horn cell death. The cause is unknown, but motor neurons depend substantially on mitochondrial oxidative phosphorylation (OxPhos) for normal function. Therefore, mitochondrial parameters
## Abstract Deletions or mutations in __survival of motor neuron 1__ (__SMN1__) cause motor neuron loss and spinal muscular atrophy (SMA), a neuromuscular disorder, with the most severe type manifesting in utero. Whether SMA is a disease of defects in neurodevelopment and/or neuromaintenance remain