What question did this study set out to answer?

To describe the distinctive clinical, biochemical, and morphological features in infants carrying a homozygous E140K missense mutation in the mitochondrial SCO2 gene.

October 23, 2001Neurology

Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy

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To describe the distinctive clinical, biochemical, and morphological features in infants carrying a homozygous E140K missense mutation in the mitochondrial SCO2 gene.
Evaluated three unrelated infants carrying a homozygous G1541A (E140K) missense mutation in the SCO2 gene.
Conducted clinical, biochemical, morphological, and functional assessments, alongside MRI/MRS neuroimaging and copper uptake assays in cultured fibroblasts.
Infants presented with an age-dependent, delayed progression compared to compound heterozygotes, featuring late-onset hypertrophic obstructive cardiomyopathy and severe neurogenic muscular atrophy.
Neuroimaging demonstrated early predominant white matter disease with delayed emergence of basal ganglia lesions.
Cultured fibroblasts exhibited significantly increased copper uptake, confirming altered cellular copper metabolism.

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Implication

Case series demonstrates delayed-onset cardiomyopathy and neurogenic atrophy in infants homozygous for SCO2 E140K, indicating altered cellular copper uptake.

Cite This Study

Jaksch et al. (2001) studied this question.

synapsesocial.com/papers/6aadfe8ba081e442804f6e03 https://doi.org/10.1212/wnl.57.8.1440

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Implication

Case series demonstrates delayed-onset cardiomyopathy and neurogenic atrophy in infants homozygous for SCO2 E140K, indicating altered cellular copper uptake.

Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy

Key Points

Discussion

Implication

Cite This Study

Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy

Key Points

Discussion

Implication

Cite This Study

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