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Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy
BackgroundMohr-Tranebjaerg syndrome (MTS) is a rare X-linked recessive neurodegenerative disorder resulting in early-onset hearing impairment,...
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Familial 5.29 Mb deletion in chromosome Xq22.1–q22.3 with a normal phenotype: a rare pedigree and literature review
BackgroundXq22.1–q22.3 deletion is a rare chromosome aberration. The purpose of this study was to identify the correlation between the phenotype and...
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X-Linked Ataxias
X-linked ataxias are phenotypically and genotypically heterogeneous. Clinically, ataxia in X-linked ataxias can be the only manifestation, the...
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X-Linked Ataxias
X-linked ataxias are phenotypically and genotypically heterogeneous. Clinically, ataxia may be the sole, the dominant, or a nondominant phenotypic...
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X-Linked Ataxias
X-linked ataxias are phenotypically and genotypically heterogeneous. Clinically, ataxia may be the sole, the dominant, or a nondominant phenotypic...
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Mitochondria as a Key Player in Aging
Mitochondrion is an organelle found in eukaryotic cells, which plays a major role in generation of ATP for cell and has its own DNA. Mitochondria are...
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Mitochondrial disulfide relay and its substrates: mechanisms in health and disease
Eukaryotic cells harbor membrane-enclosed compartments to spatially separate different biochemical processes. As a result, proteins that become...
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X-Linked Ataxias
X-linked ataxias are clinically and genetically heterogeneous. Clinically, ataxia may be the sole, the dominant, or a non-dominant phenotypic feature...
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Nonsyndromic Deafness: It Ain’t Necessarily So
Hair cells are physiologically and structurally unique. However, the expression of the majority of macromolecules used for development and...
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Mitochondrial Diseases Caused by Mutations in Inner Membrane Chaperone Proteins
This chapter summarizes current knowledge of several disorders associated with the dysfunction of the mitochondrial membrane chaperone proteins, and...
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Inhibition of mitochondrial protein import by mutant huntingtin
Mitochondrial dysfunction is associated with neuronal loss in Huntington's disease (HD), a neurodegenerative disease caused by an abnormal...
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X-Linked Ataxias
Hereditary ataxias are genetically and phenotypically heterogenous and follow various types of transmission. Hereditary ataxias which are X-linked...
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Inherited Mitochondrial Disorders
Though inherited mitochondrial disorders (MIDs) are most well known for their syndromic forms, for which widely known acronyms (MELAS, MERRF, NARP,...
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Redox Shuttles in the Brain
Herein, we summarize the most relevant systems operating in brain for the transfer of reducing equivalents from NAD+/NADH or NADP+/NADPH across the...
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Molecular Genetics of a Patient with Mohr–Tranebjaerg Syndrome due to a New Mutation in the DDP1 Gene
The deafness-dystonia syndrome (DDS) or Mohr–Tranebjaerg syndrome (MTS, MIM 304700) is a rare X-linked recessive neurological disorder resulting from...
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Lexikon der Syndrome und Fehlbildungen
Genetisch bedingter Fehlbildungskomplex auf der Grundlage einer Genmutation.
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Clinical and molecular genetics of primary dystonias
Primary dystonias are movement disorders with dystonia as a major symptom. They are frequently inherited as Mendelian traits. There are at least...