Focal dystonia caused by Mohr-Tranebjaerg syndrome with complete deletion of the DDP1 gene.
Pizzuti
A
A
CSS-San Giovanni Rotondo, Istituto Mendel, NEUROMED Institute, University "La Sapienza," Rome, Italy.
Fabbrini
G
G
Salehi
L
L
Vacca
L
L
Inghilleri
M
M
Dallapiccola
B
B
Berardelli
A
A
D000328:Adult; D000077329:Agammaglobulinaemia Tyrosine Kinase; D000361:Agammaglobulinemia / Q000150:complications / Q000235:genetics; D000381:Agraphia / Q000150:complications / Q000188:drug therapy / Q000235:genetics; D001905:Botulinum Toxins / Q000627:therapeutic use; D004421:Dystonia / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D017353:Gene Deletion; D040181:Genetic Diseases, X-Linked; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000235:genetics*; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D008297:Male; D026901:Membrane Transport Proteins / Q000172:deficiency / Q000235:genetics*; D001523:Mental Disorders / Q000150:complications / Q000235:genetics; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; D016133:Polymerase Chain Reaction; D011505:Protein-Tyrosine Kinases / Q000172:deficiency / Q000235:genetics*; D013577:Syndrome; D014786:Vision Disorders / Q000150:complications / Q000235:genetics
D016756:Immunoglobulins, Intravenous; D026901:Membrane Transport Proteins; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; C118122:TIMM8A protein, human; D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase; D001905:Botulinum Toxins