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

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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Bibliographic Details
Main Authors: Arntzen, K.A (Author), Backe, P.H (Author), Bliksrud, Y.T (Author), Jonsrud, C. (Author), Kristensen, E. (Author), Mathisen, P. (Author), Ørstavik, K. (Author), Rasmussen, M. (Author), Tangeraas, T. (Author), Van Ghelue, M. (Author)
Format: Article
Language:English
Published: John Wiley and Sons Inc 2022
Subjects:
acetyl coenzyme A acyltransferase
achilles reflex
adult
Article
carnitine
case report
clinical article
creatine kinase
electromyography
estrogen receptor alpha
fatty acid oxidation
female
fever
gastric bypass surgery
gastroenteritis
gene mutation
giant axonal neuropathy
Guillain Barre syndrome
HADHB
hospitalization
human
human tissue
lactic acid
mitochondrial trifunctional protein
MTP
muscle weakness
mutation
myoglobinuria
neuromuscular system
neuropathy
nuclear magnetic resonance imaging
obesity
paresis
phenotype
physical activity
pinprick test
polyneuropathy
respiratory tract infection
weakness
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