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Ultrastructural protein zero expression in Charcot–Marie–Tooth type 1B Disease
Author(s) -
Sindou Philippe,
Vallat JeanMichel,
Chapon Françoise,
Archelos JuanJosé,
Tabaraud François,
Anani Thierry,
Braund Kyle G.,
Maisonobe Thierry,
Hauw JeanJacques,
Vandenberghe Antoon
Publication year - 1999
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/(sici)1097-4598(199901)22:1<99::aid-mus14>3.0.co;2-5
Subject(s) - myelin , peripheral myelin protein 22 , phenotype , exon , biology , point mutation , pathology , gene , ultrastructure , mutation , microbiology and biotechnology , genetics , medicine , endocrinology , central nervous system
Charcot–Marie–Tooth type 1B (CMT 1B) disease, an inherited demyelinating peripheral neuropathy, results from different point mutations located in the P0 gene on chromosome 1 q21–23. We have quantified, at the ultrastructural level, the immunocytochemical expression of the P0 protein in two unrelated CMT 1B patients with mutations (Ser 78 to Leu and Asn 122 to Ser) located in two different exons in the extracellular domain of the protein. A twofold decrease in P0 expression was observed in compact myelin in each case, compared with age‐matched controls. The severity of the phenotypes showed no direct relationship to the levels of P0 protein expression in these 2 patients. © 1999 John Wiley & Sons, Inc. Muscle Nerve 22: 99–104, 1999