Scp2 variant is associated with alterations in lipid metabolism, brainstem neurodegeneration, and testicular defects

HIGHLIGHTS

• who: Melanie Galano from the (UNIVERSITY) have published the research: SCP2 variant is associated with alterations in lipid metabolism, brainstem neurodegeneration, and testicular defects, in the Journal: (JOURNAL)
• what: The authors report herein the first patient with a heterozygous SCP2 mutation leading to SCPx deficiency. Collectively this work provides insight into many of the clinical consequences of SCPx deficiency and provides evidence for potential treatment strategies. The authors report a patient presenting with progressive neurodegeneration including loss of cranial nerve function affecting the patient's ability to swallow, chew, speak, breathe, and control head movement . . .
  

   

  

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