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

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

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

Heterozygous OPA1 mutations in Behr syndrome

(2010) C. Marelli et al.   BRAIN

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

(2010) P. Yu-Wai-Man et al.   BRAIN

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novelOPA1mutations

(2009) Marc Ferré et al.   HUMAN MUTATION

Hereditary optic neuropathies share a common mitochondrial coupling defect

(2008) Arnaud Chevrollier et al.   ANNALS OF NEUROLOGY

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

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

Comprehensive cDNA study and quantitative transcript analysis of mutantOPA1transcripts containing premature termination codons

(2007) Simone Schimpf et al.   HUMAN MUTATION