A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.
about
Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like conditionHuman deafness dystonia syndrome is a mitochondrial diseaseNonsyndromic hearing impairment: unparalleled heterogeneityThe mitochondrial TIM22 preprotein translocase is highly conserved throughout the eukaryotic kingdomA novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndromeRole of the deafness dystonia peptide 1 (DDP1) in import of human Tim23 into the inner membrane of mitochondriaThe C66W mutation in the deafness dystonia peptide 1 (DDP1) affects the formation of functional DDP1.TIM13 complexes in the mitochondrial intermembrane spaceNeuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a geneMitochondrial Trifunctional Protein Defects: Clinical Implications and Therapeutic ApproachesDominant optic atrophy.X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11.Beginning of a molecular era in hearing and deafness.Localisation of a new gene for non-specific mental retardation to Xq22-q26 (MRX35).Protein translocation pathways of the mitochondrion.The Tim9p-Tim10p complex binds to the transmembrane domains of the ADP/ATP carrierMitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation.Assessment of patients with isolated or combined dystonia: an update on dystonia syndromes.A fluorescent two-hybrid assay for direct visualization of protein interactions in living cells.Mitochondrial protein import and human health and disease.Otopathology in Mohr-Tranebjaerg syndromeClinical aspects of hereditary hearing loss.The mitochondrial connection in auditory neuropathy.Cognitive dysfunction in mitochondrial disorders.The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.Inherited hearing loss: molecular genetics and diagnostic testing.Mitochondria and neurodegenerative diseases: the promising role of nanotechnology in targeted drug delivery.Study of X-linked mental retardation (XLMR): summary of 61 families in the Miami/Greenwood Study.Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?Mitochondrial Sensorineural Hearing Loss: A Retrospective Study and a Description of Cochlear Implantation in a MELAS Patient.Defective mitochondrial protein translocation precludes normal Caenorhabditis elegans development.Progressive dystonia in Mohr-Tranebjaerg syndrome with cochlear implant and deep brain stimulation.mPOS is a novel mitochondrial trigger of cell death - implications for neurodegeneration.Hearing loss in mitochondrial disorders.Auditory processing deficits in individuals with primary open-angle glaucoma.The syndrome of deafness-dystonia: clinical and genetic heterogeneity.Cochlear implantation in children with congenital X-linked deafness due to novel mutations in POU3F4 gene.Hearing profile and MRI myelination of auditory pathway in Pelizaeus-Merzbacher disease.A contiguous deletion syndrome of X-linked agammaglobulinemia and sensorineural deafness.Defective mitochondrial protein import contributes to complex I-induced mitochondrial dysfunction and neurodegeneration in Parkinson's disease
P2860
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P2860
A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.
description
1995 nî lūn-bûn
@nan
1995 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
A new X linked recessive deafn ...... l deficiency is linked to Xq22
@nl
A new X linked recessive deafn ...... deficiency is linked to Xq22.
@ast
A new X linked recessive deafn ...... deficiency is linked to Xq22.
@en
A new X linked recessive deafn ...... deficiency is linked to Xq22.
@en-gb
type
label
A new X linked recessive deafn ...... l deficiency is linked to Xq22
@nl
A new X linked recessive deafn ...... deficiency is linked to Xq22.
@ast
A new X linked recessive deafn ...... deficiency is linked to Xq22.
@en
A new X linked recessive deafn ...... deficiency is linked to Xq22.
@en-gb
prefLabel
A new X linked recessive deafn ...... l deficiency is linked to Xq22
@nl
A new X linked recessive deafn ...... deficiency is linked to Xq22.
@ast
A new X linked recessive deafn ...... deficiency is linked to Xq22.
@en
A new X linked recessive deafn ...... deficiency is linked to Xq22.
@en-gb
P2093
P2860
P356
P1476
A new X linked recessive deafn ...... deficiency is linked to Xq22.
@en
P2093
C Schwartz
L Tranebjaerg
R E Stevenson
S Andreasson
V Ponjavic
P2860
P304
P356
10.1136/JMG.32.4.257
P407
P577
1995-04-01T00:00:00Z