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In this study, we have identified and evaluated the muscle MRI finding in a cohort of late-onset LSM patients carried pathological ETFDH gene mutations.
A previous MRI findings about MADD have described those T2 hyperintense lesions in the bilateral globus pallidus in a young child with neonatal-onset form.[sup] While a recent report using whole-body MRI revealed an increase subcutaneous fat but normal visceral fat, despite fatty liver and lipid storage in muscle, in a young patient with a novel homozygous missense mutation in ETFDH gene.[sup] These studies only paid attention on the brain lesion or body fat distribution.
In conclusion, late-onset MADD patients harboring ETFDH gene mutations presented an overall homogeneous pattern of muscle pathology on muscle MRI appearances, which are among the conditions associated with typical fat infiltration and atrophy.
Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in Southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A.
Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations.
Exons and intron-exon boundaries of ETFA , ETFB , and ETFDH were amplified by polymerase chain reaction (PCR), and the products were sequenced using an ABI 3730XL Automated DNA Sequencer (PE Applied Biosystems, Foster City, CA).
Nine ETFDH mutations were detected in the 45 patients, including c.250G > A (p.Ala84Thr), c.380T > A (p.Leu127His), c.1601C > T (p.Pro534Leu), c.524G > A (p.Arg175His), c.998A > G (p.Tyr333Cys), c.770A > G (p.Try257Cys), c.409C > T (p.Pro137Ser), c.1395T > G (p.Try465X), and c.
In Southern China, the hotspot of ETFDH mutation is c.
A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH gene.
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.
A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (MADD) with a novel mutation in ETFDH gene.
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- ETF Global
- ETFA deficiency
- ETFB deficiency
- ETFDH deficiency