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SPATA5 mutations identified by whole exome sequencing cause a novel autosomal recessive defect of mitochondrial morphogenesis characterized by microcephaly, intellectual disability, seizures, and hearing loss
. 31:101-102.
2016
Hepatic cirrhosis & neurological deficits in a male with de novo heteroplasmic mitochondrial DNA mutation
. 13:938-938.
2013
Diagnosis and treatment of secondary mitochondrial disease
. 12:563-564.
2012
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International Standard Serial Number (ISSN)
1567-7249