Ontology highlight
ABSTRACT:
SUBMITTER: Hebbar M
PROVIDER: S-EPMC6379073 | biostudies-literature | 2017 Oct
REPOSITORIES: biostudies-literature
Hebbar Malavika M Girisha Katta M KM Srivastava Anshika A Bielas Stephanie S Shukla Anju A
European journal of medical genetics 20170712 10
We ascertained a child with early onset cerebellar ataxia and identified a novel frameshift deletion, c.359del [p. (Pro120Leufs*2), NM_052865.2] in exon 2 of MGME1 (mitochondrial genome maintenance exonuclease 1) by exome sequencing. Variations in MGME1 have been reported to cause mitochondrial DNA (mtDNA) depletion syndrome 11 (MIM #615084) in an earlier work. The phenotype included progressive external ophthalmoplegia, emaciation, respiratory failure and late onset progressive ataxia. However, ...[more]