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

Molecular Genetics & Genomic Medicine

Shannon Kruk¹  Peter McGuire¹  Ivan Yang¹  Eliza Gordon‐Lipkin¹  Ellen F. Macnamara²  Jennifer Murphy²  Beattie R. H. Sturrock³  Cyndi J. Tifft⁴ 

[1] Metabolism, Infection and Immunity Section, National Human Genome Research Institute, NIH, Bethesda, MD, USA;National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, USA;National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, USA;Brighton and Sussex University Hospitals NHS Trust, Brighton, England;National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, USA;Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD, USA;

关键词: cerebellar atrophy;    complex II;    mitochondrial disease;    novel mutation;    SHDA;   

DOI  :  10.1002/mgg3.1692

来源: Wiley

【 授权许可】

CC BY