Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22

Neuromuscular Disorders

Volumn 9, Issue 4, 1999, Pages 257-261

  Simonati, A ^a   Fabrizi, G M ^a   Pasquinelli, A ^b   Taioli, F ^a   Cavallaro, T ^a   Morbin, M ^a   Marcon, G ^a   Papini, M ^b   Rizzuto, N ^a  

^a UNIVERSITY OF VERONA   (Italy)

^b Dept of Neurol and Psychiat Sci   (Italy)

Author keywords

Congenital hypomyelination neuropathy; Dejerine Sottas disease; Hypomyelination; PMP22

Indexed keywords

ARTICLE; CASE REPORT; CHILD; DEMYELINATING NEUROPATHY; ELECTROMYOGRAM; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MORPHOMETRICS; MUSCLE BIOPSY; NERVE CONDUCTION; POINT MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

AMINO ACID SUBSTITUTION; DEMYELINATING DISEASES; DNA; ELECTROMYOGRAPHY; ELECTROPHYSIOLOGY; HUMANS; INFANT; MALE; MUTATION, MISSENSE; MYELIN PROTEINS; POINT MUTATION; SURAL NERVE;

EID: 0033039998     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(99)00008-5     Document Type: Article

References (9)

1. Gabreëls-Festen A.A.W.M., Gabreels F.J.M., Jennekens F.G.I., Janssen-van Kempen T.W. The status of HMSN type III. Neuromusc Disord. 4:1994;63-69.
2. De Jonghe P., Timmermann V., Nelis E., Martin J.-J., Van Broeckhoven C. Charcot-Marie-Tooth disease and related peripheral neuropathies. J Periph Nerv Syst. 2:1997;370-387.
3. Warner L.E., Hilz M.J., Appel S.H.et al. Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type1B, Dejerine-Sottas, and congenital hypomyelination. Neuron. 17:1996;451-460.
4. Warner L.E., Mancias P., Butler I.J.et al. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet. 18:1998;382-384.
5. Roa B.B., Garcia C.A., Suter U.et al. Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene. N Engl J Med. 329:1993;96-101.
6. Suter U., Snipes G.J. Peripheral myelin protein 22: facts and hypotheses. J Neurosci Res. 40:1995;145-151.
7. Martini R., Schachner M. Molecular bases of myelin formation as revealed by investigation on mice deficient in glial cell surface molecules. Glia. 19:1997;298-310.
8. Marques W. Jr., Thomas P.K., Sweeney M.G., Carr L., Wood N.W. Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible 'hot spot' on Ser72. Ann Neurol. 43:1998;680-683.
9. Tyson J., Ellis D., Fairbrother U.et al. Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome. Brain. 120:1997;47-63.