Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.
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V. Desquiret-Dumas | E. Colin | D. Bonneau | P. Amati‐Bonneau | G. Lenaers | P. Reynier | V. Procaccio | D. Rodriguez | C. Barnérias | I. Desguerre | A. Slama | M. Ferré | A. Chevrollier | N. Gueguen | F. Oca | S. N'guyen | M. Barth | X. Zanlonghi | M. Rio | M. Momtchilova | C. Barnerias
[1] R. Lewis,et al. Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations. , 2011, Molecular genetics and metabolism.
[2] A. Durr,et al. Heterozygous OPA1 mutations in Behr syndrome. , 2011, Brain : a journal of neurology.
[3] D. Turnbull,et al. Multi-system neurological disease is common in patients with OPA1 mutations , 2010, Brain : a journal of neurology.
[4] D. Milea,et al. Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations , 2009, Human mutation.
[5] D. Milea,et al. Hereditary optic neuropathies share a common mitochondrial coupling defect , 2008, Annals of neurology.
[6] R. Schwarzenbacher,et al. OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. , 2008, Brain : a journal of neurology.
[7] B. Wissinger,et al. Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons , 2008, Human mutation.
[8] Jing Wang,et al. OPA1 R445H mutation in optic atrophy associated with sensorineural deafness , 2005, Annals of neurology.
[9] E. Zrenner,et al. OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance. , 2001, Human molecular genetics.