共 233 条
[1]
Amati-Bonneau P(2005)OPA1 R445H mutation in optic atrophy associated with sensorineural deafness Ann Neurol 58 958-963
[2]
Guichet A(2008)OPA1 mutations induce mitochondrial DNA instability and optic atrophy ‘plus’ phenotypes Brain 131 338-351
[3]
Olichon A(2010)Multi-system neurological disease is common in patients with OPA1 mutations Brain 133 771-786
[4]
Chevrollier A(2001)OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance Hum Molec Genet 10 1359-1368
[5]
Viala F(2011)Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations Molec Genet Metab 103 383-387
[6]
Miot S(2014)Early-onset Behr syndrome due to compound heterozygous mutations in OPA1 Brain 137 e301-131
[7]
Ayuso C(2015)‘Behr syndrome’ with OPA1 compound heterozygote mutations Brain 138 e321-95
[8]
Odent S(2016)Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation J Med Genet 53 127-35
[9]
Arrouet C(2002)Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR Nucleic Acids Res 30 e68-303
[10]
Amati-Bonneau P(2013)Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy Am J Hum Genet 93 482-7