Bi-allelic mutations in ndufa6 establish its role in early-onset isolated mitochondrial complex i deficiency

HIGHLIGHTS

• who: Charlotte L. Alston from the Institut Newcastle University Complexes, " Goethe-Universität, Frankfurt am Main, Germany have published the paper: Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency, in the Journal: (JOURNAL)
• what: Facilitated by the GeneMatcher tool the authors report the findings from four unrelated, clinically affected children who presented with symptoms suggestive of mitochondrial disease.

SUMMARY

Neuroimaging of Subjects 1 and 2 (A and B) Axial T2 imaging of subject 1 shows diffusely abnormal hyperintensity of the entire white matter . . .

 



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