Case report: Mitochondrial trifunctional protein deficiency caused by HADHB gene mutation (c.1175C>T) characterized by higher brain dysfunction followed by neuropathy, presented gadolinium enhancement on brain imaging in an adult patient

Mitochondrial trifunctional protein (MTP) deficiency is an autosomal recessive disorder caused by impaired metabolism of long-chain fatty acids (LCFAs). Childhood and late-onset MTP deficiency is characterized by myopathy/rhabdomyolysis and peripheral neuropathy; however, the features are unclear. A...

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Detalles Bibliográficos
Autores principales: Ishikawa, Ruoyi, Nakamori, Masahiro, Takenaka, Megumi, Aoki, Shiro, Yamazaki, Yu, Hashiguchi, Akihiro, Takashima, Hiroshi, Maruyama, Hirofumi
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/PMC10299898/
https://www.ncbi.nlm.nih.gov/pubmed/37388542
http://dx.doi.org/10.3389/fneur.2023.1187822

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