Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency

Mitochondrial trifunctional protein (MTP) deficiency is an ultrarare hereditary recessive disorder causing a broad spectrum of phenotypes with lethal infantile cardiomyopathy at the most severe end. Attenuated forms with polyneuropathy have been reported combined with myoglobinuria or rhabdomyolysis...

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Detalles Bibliográficos
Autores principales: Ørstavik, Kristin, Arntzen, Kjell Arne, Mathisen, Per, Backe, Paul Hoff, Tangeraas, Trine, Rasmussen, Magnhild, Kristensen, Erle, Van Ghelue, Marijke, Jonsrud, Christoffer, Bliksrud, Yngve Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8995838/
https://www.ncbi.nlm.nih.gov/pubmed/35433169
http://dx.doi.org/10.1002/jmd2.12276

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8995838/
https://www.ncbi.nlm.nih.gov/pubmed/35433169
http://dx.doi.org/10.1002/jmd2.12276

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