Lowered oxidative capacity in spinal muscular atrophy, Jokela type; comparison with mitochondrial muscle disease

IntroductionSpinal 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 prese...

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Principais autores:	Nadja Ratia, Edouard Palu, Hanna Lantto, Emil Ylikallio, Ritva Luukkonen, Anu Suomalainen, Mari Auranen, Päivi Piirilä
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2023-11-01
coleção:	Frontiers in Neurology
Assuntos:	spinal muscular atrophy Jokela type (SMAJ) motoneuron disease mitochondrial myopathy cardiopulmonary exercise testing lactate
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fneur.2023.1277944/full
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