Ontology highlight
ABSTRACT:
SUBMITTER: Saunders CJ
PROVIDER: S-EPMC4361307 | biostudies-literature | 2015 Mar
REPOSITORIES: biostudies-literature
Saunders Carol J CJ Moon Sung Ho SH Liu Xinping X Thiffault Isabelle I Coffman Keith K LePichon Jean-Baptiste JB Taboada Eugenio E Smith Laurie D LD Farrow Emily G EG Miller Neil N Gibson Margaret M Patterson Melanie M Kingsmore Stephen F SF Gross Richard W RW
Human mutation 20150301 3
Mitochondriopathies are a group of clinically heterogeneous genetic diseases caused by defects in mitochondrial metabolism, bioenergetic efficiency, and/or signaling functions. The large majority of proteins involved in mitochondrial function are encoded by nuclear genes, with many yet to be associated with human disease. We performed exome sequencing on a young girl with a suspected mitochondrial myopathy that manifested as progressive muscle weakness, hypotonia, seizures, poor weight gain, and ...[more]