Rapid Identification of a Novel Complex I MT-ND3 m.10134C>A Mutation in a Leigh Syndrome Patient

Severe infantile leigh syndrome associated with a rare mitochondrialND6mutation, m.14487T>C

(2013) Mark Tarnopolsky et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mitochondrial Disease in Childhood: Nuclear Encoded

(2013) Amy C. Goldstein et al.   Neurotherapeutics

The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome

(2012) VICTORIA NESBITT et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

EPI-743 reverses the progression of the pediatric mitochondrial disease—Genetically defined Leigh Syndrome

(2012) Diego Martinelli et al.   MOLECULAR GENETICS AND METABOLISM

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

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

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease

(2009) F. Distelmaier et al.   BRAIN

Leigh and Leigh-Like Syndrome in Children and Adults

(2008) Josef Finsterer   PEDIATRIC NEUROLOGY