SURF1-associated leigh syndrome: A case series and novel mutations

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

(2011) Helen Swalwell et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency

(2011) F.-G. Debray et al.   JOURNAL OF MEDICAL GENETICS

Hypoxic and hypercapnic challenges unveil respiratory vulnerability of Surf1 knockout mice, an animal model of Leigh syndrome

(2010) Georg M. Stettner et al.   MITOCHONDRION

SURF1missense mutations promote a mild Leigh phenotype

(2009) D Piekutowska-Abramczuk et al.   CLINICAL GENETICS

Heterogeneity of magnetic resonance imaging in Leigh syndrome with SURF1 gene 604G→C mutation

(2009) Sheng Xie et al.   CLINICAL IMAGING

High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients

(2008) Dorota Piekutowska-Abramczuk et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE

Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease

(2007) M Pronicki et al.   JOURNAL OF CLINICAL PATHOLOGY