Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygousOPA1mutation

Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

(2014) Patrick Yu-Wai-Man et al.   BRAIN

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

(2014) Dominique Bonneau et al.   BRAIN

Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier

(2014) T. Bonifert et al.   BRAIN

Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy

(2014) Ulla Najwa Abdulhag et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Disturbed mitochondrial dynamics and neurodegenerative disorders

(2014) Florence Burté et al.   Nature Reviews Neurology

NovelOPA1missense mutation in a family with optic atrophy and severe widespread neurological disorder

(2013) Petra Liskova et al.   ACTA OPHTHALMOLOGICA

OPA1 Mutation and Late‐Onset Cardiomyopathy: Mitochondrial Dysfunction and mtDNA Instability

(2013) Le Chen et al.   Journal of the American Heart Association

The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse

(2012) Emmanuelle Sarzi et al.   BRAIN

The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype

(2011) C. Rouzier et al.   BRAIN

Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations

(2011) Christian P. Schaaf et al.   MOLECULAR GENETICS AND METABOLISM

Defective Mitochondrial Adenosine Triphosphate Production in Skeletal Muscle From Patients With Dominant Optic Atrophy Due to OPA1 Mutations

(2010) Raffaele Lodi et al.   ARCHIVES OF NEUROLOGY

Multi-system neurological disease is common in patients with OPA1 mutations

(2010) P. Yu-Wai-Man et al.   BRAIN

Mitochondrial Fusion Is Required for mtDNA Stability in Skeletal Muscle and Tolerance of mtDNA Mutations

(2010) Hsiuchen Chen et al.   CELL

OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution

(2010) G. Elachouri et al.   GENOME RESEARCH

A Novel Mutation in the SCO2 Gene in a Neonate With Early-Onset Cardioencephalomyopathy

(2010) Kairit Joost et al.   PEDIATRIC NEUROLOGY

A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation

(2008) M. Liguori et al.   JOURNAL OF NEUROLOGY

OPA1 IN MULTIPLE MITOCHONDRIAL DNA DELETION DISORDERS

(2008) J. D. Stewart et al.   NEUROLOGY

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

(2007) P. Amati-Bonneau et al.   BRAIN