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Lowered oxidative capacity in spinal muscular atrophy, Jokela type; comparison with mitochondrial muscle disease
INTRODUCTION: Spinal muscular atrophy, Jokela type (SMAJ) is a rare autosomal dominantly hereditary form of spinal muscular atrophy caused by a point mutation c.197G>T in CHCHD10. CHCHD10 is known to be involved in the regulation of mitochondrial function even though patients with SMAJ do not pre...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10663357/ https://www.ncbi.nlm.nih.gov/pubmed/38020590 http://dx.doi.org/10.3389/fneur.2023.1277944 |