What Is Half Of 543 The authors report a case of leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene This is the first report that NDUFAF1 mutations
We report an unusual case of mitochondrial leukodystrophy due to complex 1 deficiency associated with nucleotide binding protein like NUBPL gene mutation ing all four limbs The data show that NUBPL mutations are associated with a unique consistent and recognizable MRI pattern which facilitates fast diagnosis and obviates the need for other tests including
What Is Half Of 543
What Is Half Of 543
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Recessive variants in the NUBPL gene are causative for a rare mitochondrial complex I deficiency disorder Previous studies have investigated the pathogenicity of NUBPL Complex I deficiency is the most frequently encountered single mitochondrial single enzyme deficiency in patients with a mitochondrial disorder Although specific
Our data show that NUBPL mutations are associated with a unique consistent and recognizable MRI pattern which facilitates fast diagnosis and obviates the need for other Deficiency of mitochondrial respiratory chain complex 1 is caused by homozygous or compound heterozygous mutations in the NUBPL gene It is the most common enzymatic defect of the
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Leukodystrophy Associated with Mitochondrial Complex 1 Deficiency Due to Mutation in NUBPL Gene An Unusual Follow Up Finding Indian J Radiol Imaging 2022 Nov Mitochondrial leukodystrophies are characterized by the loss of the protective covering or myelin on the neurons This is called demyelination Additionally other body systems that rely on
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https://pubmed.ncbi.nlm.nih.gov
The authors report a case of leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene This is the first report that NDUFAF1 mutations
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We report an unusual case of mitochondrial leukodystrophy due to complex 1 deficiency associated with nucleotide binding protein like NUBPL gene mutation ing all four limbs
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What Is Half Of 543 - Deficiency of mitochondrial respiratory chain complex 1 is caused by homozygous or compound heterozygous mutations in the NUBPL gene It is the most common enzymatic defect of the
