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Focal dystonia caused by Mohr-Tranebjaerg syndrome with complete deletion of the DDP1 gene. 2004

A Pizzuti, and G Fabbrini, and L Salehi, and L Vacca, and M Inghilleri, and B Dallapiccola, and A Berardelli
CSS-San Giovanni Rotondo, Istituto Mendel, NEUROMED Institute, University "La Sapienza," Rome, Italy.

UI MeSH Term Description Entries
D008297 Male Males
D011505 Protein-Tyrosine Kinases Protein kinases that catalyze the PHOSPHORYLATION of TYROSINE residues in proteins with ATP or other nucleotides as phosphate donors. Tyrosine Protein Kinase,Tyrosine-Specific Protein Kinase,Protein-Tyrosine Kinase,Tyrosine Kinase,Tyrosine Protein Kinases,Tyrosine-Specific Protein Kinases,Tyrosylprotein Kinase,Kinase, Protein-Tyrosine,Kinase, Tyrosine,Kinase, Tyrosine Protein,Kinase, Tyrosine-Specific Protein,Kinase, Tyrosylprotein,Kinases, Protein-Tyrosine,Kinases, Tyrosine Protein,Kinases, Tyrosine-Specific Protein,Protein Kinase, Tyrosine-Specific,Protein Kinases, Tyrosine,Protein Kinases, Tyrosine-Specific,Protein Tyrosine Kinase,Protein Tyrosine Kinases,Tyrosine Specific Protein Kinase,Tyrosine Specific Protein Kinases
D001905 Botulinum Toxins Toxic proteins produced from the species CLOSTRIDIUM BOTULINUM. The toxins are synthesized as a single peptide chain which is processed into a mature protein consisting of a heavy chain and light chain joined via a disulfide bond. The botulinum toxin light chain is a zinc-dependent protease which is released from the heavy chain upon ENDOCYTOSIS into PRESYNAPTIC NERVE ENDINGS. Once inside the cell the botulinum toxin light chain cleaves specific SNARE proteins which are essential for secretion of ACETYLCHOLINE by SYNAPTIC VESICLES. This inhibition of acetylcholine release results in muscular PARALYSIS. Botulin,Botulinum Neurotoxin,Botulinum Neurotoxins,Clostridium botulinum Toxins,Botulinum Toxin,Neurotoxin, Botulinum,Neurotoxins, Botulinum,Toxin, Botulinum,Toxins, Botulinum,Toxins, Clostridium botulinum
D004421 Dystonia An attitude or posture due to the co-contraction of agonists and antagonist muscles in one region of the body. It most often affects the large axial muscles of the trunk and limb girdles. Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS. (Adams et al., Principles of Neurology, 6th ed, p77) Muscle Dystonia,Dystonia, Diurnal,Dystonia, Limb,Dystonia, Paroxysmal,Diurnal Dystonia,Dystonia, Muscle,Limb Dystonia,Paroxysmal Dystonia
D006319 Hearing Loss, Sensorineural Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM. Deafness Neurosensory,Deafness, Neurosensory,Deafness, Sensoryneural,Neurosensory Deafness,Sensorineural Hearing Loss,Sensoryneural Deafness,Cochlear Hearing Loss,Hearing Loss, Cochlear,Deafnesses, Neurosensory,Deafnesses, Sensoryneural,Neurosensory Deafnesses,Sensoryneural Deafness,Sensoryneural Deafnesses
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000077329 Agammaglobulinaemia Tyrosine Kinase A non-receptor tyrosine kinase that is essential for the development, maturation, and signaling of B-LYMPHOCYTES. It contains an N-terminal zinc finger motif and localizes primarily to the PLASMA MEMBRANE and nucleus of B-lymphocytes. Mutations in the gene that encode this kinase are associated with X-LINKED AGAMMAGLOBULINEMIA. B Cell Progenitor Kinase,Bruton's Tyrosine Kinase,Bruton Tyrosine Kinase,Brutons Tyrosine Kinase,Kinase, Agammaglobulinaemia Tyrosine,Kinase, Bruton's Tyrosine,Tyrosine Kinase, Agammaglobulinaemia,Tyrosine Kinase, Bruton's
D000090622 Mitochondrial Precursor Protein Import Complex Proteins Multiprotein complexes that mediate import and sorting of mitochondrial preproteins into one of the four mitochondrial subcompartments: the outer membrane, the intermembrane space, the inner membrane, and the matrix. Mitochondrial protein import machinery includes translocase of the outer membrane (TOM) complex, translocases of the inner membrane (TIM) complex, beta‐barrel pathway complex, the mitochondrial intermembrane space import and assembly (MIA) pathway complex, carrier proteins of the inner membrane and the TIM23 complex and sorting and assembly machinery (SAM) complex. MIA Complex,MIM Complex,Mitochondrial Import Complex,Mitochondrial Intermembrane Space Import and Assembly Complex,Mitochondrial Precursor Protein Import Machinery Proteins,Mitochondrial Preprotein Translocases,Mitochondrial Protein Import Machinery Proteins,SAM Complex,Sorting and Assembly Machinery Complex,TIM Complex,TIM23 Complex,TIMM Complex,TOM Channel,TOM Complex,TOM Translocase,TOMM Complex,TOMM Machinery,Translocase Outer Mitochondrial Membrane,Translocase of the Inner Membrane Complex,Translocase of the Inner Mitochondrial Membrane Complex,Translocase of the Outer Membrane Complex,Translocases of the Inner Membrane 23 Complex,Translocases of the Inner Membrane Complex,Import Complex, Mitochondrial,Preprotein Translocases, Mitochondrial,Translocase, TOM,Translocases, Mitochondrial Preprotein
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D000361 Agammaglobulinemia An immunologic deficiency state characterized by an extremely low level of generally all classes of gamma-globulin in the blood. Hypogammaglobulinemia,Agammaglobulinemias,Hypogammaglobulinemias

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