A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.
about
A recurrent deletion mutation in OPA1 causes autosomal dominant optic atrophy in a Chinese familySpectrum of combined respiratory chain defects.Genetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy.Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation.Disrupted mitochondrial function in the Opa3L122P mouse model for Costeff Syndrome impairs skeletal integrity.Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria.Mitochondrial dynamic changes in health and genetic diseases.The Eye on Mitochondrial Disorders.Mitochondrial Membrane Dynamics and Inherited Optic Neuropathies.A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy.ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia.
P2860
Q30368414-85B584C5-85A3-4E1A-A153-794295C63AC4Q35825509-01623CEB-5991-475A-B1E7-8D7439F69DD3Q36247821-16AF611D-E117-4A34-AEF1-42339080F2BDQ37518618-0B1354C3-C452-410F-B529-C3F355F7927DQ37530214-5A96CF51-8E57-44A3-94C5-EF44CD13A876Q37704828-58E40975-DA52-4540-A1A5-060119EE6CAEQ38237889-F147A310-A54C-4622-9B2C-387F42923804Q38567104-8B507940-B344-406E-BCF1-2E20309F603BQ39399568-0B3054DC-A2CF-486D-BEA8-E1781BD4F63CQ43214675-B64E4997-C7F4-4C67-A8A2-D2D31530757AQ48090122-FBBC5C82-1D3F-45D0-9EF0-CF2B4866E06EQ50354443-E3C30DBD-41B9-4A92-9BF5-5E07B1746141Q55383192-487B4975-156B-413B-8302-F98AADDC89FE
P2860
A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年学术文章
@wuu
2013年学术文章
@zh
2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
2013年學術文章
@zh-hant
name
A novel heterozygous OPA3 muta ...... gmented mitochondrial network.
@en
A novel heterozygous OPA3 muta ...... gmented mitochondrial network.
@nl
type
label
A novel heterozygous OPA3 muta ...... gmented mitochondrial network.
@en
A novel heterozygous OPA3 muta ...... gmented mitochondrial network.
@nl
prefLabel
A novel heterozygous OPA3 muta ...... gmented mitochondrial network.
@en
A novel heterozygous OPA3 muta ...... gmented mitochondrial network.
@nl
P2093
P2860
P50
P1476
A novel heterozygous OPA3 muta ...... gmented mitochondrial network.
@en
P2093
Beate Leo-Kottler
Bernd Wissinger
Cécile Delettre
Gertraud Engl
Lena F Burbulla
Simone Schimpf-Linzenbold
Tanja Grau
Tony Roscioli
P2860
P304
P356
10.1136/JMEDGENET-2013-101774
P407
P577
2013-10-17T00:00:00Z