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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...

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Detalles Bibliográficos
Autores principales:	Ratia, Nadja, Palu, Edouard, Lantto, Hanna, Ylikallio, Emil, Luukkonen, Ritva, Suomalainen, Anu, Auranen, Mari, Piirilä, Päivi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Neurology
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

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