Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum

ConclusionWe, therefore, consider whether c.454G>A (p.E152K) is, indeed, a pathogenic variant, and what implications it has for family members who carry the same variant.

Source: Molecular Genetics & Genomic Medicine - May 7, 2021 Category: Genetics & Stem Cells Authors: Beattie R. H. Sturrock, Ellen F. Macnamara, Peter McGuire, Shannon Kruk, Ivan Yang, Jennifer Murphy, Undiagnosed Diseases Network, Cyndi J. Tifft, Eliza Gordon ‐Lipkin, Maria T Acosta, Margaret Adam, David R Adams, Pankaj B Agrawal, Mercede Tags: CLINICAL REPORT Source Type: research