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

Abstract 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 rhabd...

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מידע ביבליוגרפי

Principais autores:	Kristin Ørstavik, Kjell Arne Arntzen, Per Mathisen, Paul Hoff Backe, Trine Tangeraas, Magnhild Rasmussen, Erle Kristensen, Marijke Van Ghelue, Christoffer Jonsrud, Yngve Thomas Bliksrud
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	Wiley 2022-05-01
סדרה:	JIMD Reports
נושאים:	HADHB MTP mutation neuropathy weakness
גישה מקוונת:	https://doi.org/10.1002/jmd2.12276
תגים:	הוספת תג אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!