Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B

Neuromuscular Disorders

Volumn 16, Issue 3, 2006, Pages 183-187

  Fabrizi, Gian Maria ^a   Pellegrini, Maria ^a   Angiari, Chiara ^a   Cavallaro, Tiziana ^a   Morini, Alberto ^b   Taioli, Federica ^a   Cabrini, Ilaria ^a   Orrico, Daniele ^b   Rizzuto, Nicolò ^a  

^a UNIVERSITY OF VERONA   (Italy)

^b SANTA CHIARA HOSPITAL   (Italy)

Author keywords

Charcot Marie Tooth disease type 1B; Gene dosage; Myelin protein zero

Indexed keywords

MYELIN PROTEIN; MYELIN PROTEIN ZERO; NERVE PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; ANAMNESIS; ARTICLE; CASE REPORT; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; ELECTROPHYSIOLOGY; FEMALE; GENE DOSAGE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; NERVE BIOPSY; NERVE POTENTIAL; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SENSITIVITY ANALYSIS;

ADULT; AGED; ASPARTIC ACID; CHARCOT-MARIE-TOOTH DISEASE; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; GENE DOSAGE; HUMANS; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MOLECULAR SEQUENCE DATA; MUTATION; MYELIN P0 PROTEIN; NERVE FIBERS, MYELINATED; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; TYROSINE;

EID: 33644982296     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2006.01.006     Document Type: Article

References (10)

1. M.E. Shy, A. Jáni, and K. Krajewski Phenotypic clustering in MPZ mutations Brain 127 2004 1 14
2. L.E. Warner, M.J. Hilz, and S.H. Appel Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas and congenital hypomyelination Neuron 17 1996 451 460
3. T. Ikegami, G. Nicholson, and H. Ikeda A novel homozygous mutation of the myelin P0 gene producing Dejerine-Sottas disease (Hereditary Motor and Sensory Neuropathy type III) Biochem Biophys Res Commun 222 1996 107 110
4. D. Pareyson, A. Sghirlanzoni, and S. Botti Charcot-Marie-Tooth disease type 2 and P0 gene mutations Neurology 52 1999 1110 1111
5. A. Leal, C. Berghoff, and M. Berghoff Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ,P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family Neurogenetics 4 2003 191 197
6. G.M. Fabrizi, M. Ferrarini, T. Cavallaro, R. Jarre, A. Polo, and N. Rizzuto A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritance of CMT1B Neurology 57 2001 101 105
7. W. Xu, M. Shy, and J. Kamholz Mutations in the cytoplasmic domain of P0 reveal a role for PKC-mediated phosphorylation in adhesion and myelination J Cell Biol 155 2001 439 445
8. S. Sander, R.A. Ouvrier, J.G. McLeod, G.A. Nicholson, and J.D. Pollard Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies J Neurol Neurosurg Psychiatry 68 2000 483 488
9. R. Martini, J. Zielasek, K.V. Toyka, K.P. Giese, and M. Schachner Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies Nat Genet 11 1995 281 286
10. M.H. Wong, and M.T. Filbin Dominant-negative effect on adhesion by myelin P0 protein truncated in its cytoplasmic domain J Cell Biol 134 1996 1531 1541