First report of childhood progressive cerebellar atrophy due to compound heterozygous MTFMT variants

Clin Genet. 2020 May;97(5):793-794. doi: 10.1111/cge.13708. Epub 2020 Mar 5.

Authors

Renkui Bai¹, Katrina Haude¹, Edward Yang², Amy Goldstein³, Irina Anselm⁴

Affiliations

¹ Mitochondrial Disorders Testing Services, GeneDx, Gaithersburg, Maryland.
² Department of Radiology, Boston Children's Hospital, Boston, Massachusetts.
³ Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
⁴ Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.

PMID: 32133637
DOI: 10.1111/cge.13708

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adolescent
Atrophy / genetics*
Atrophy / pathology
Female
Genetic Predisposition to Disease*
Heterozygote
Humans
Mutation / genetics