Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Sindou, P; Vallat, JM; Chapon, F; Archelos, JJ; Tabaraud, F; Anani, T; Braund, KG; Maisonobe, T; Hauw, JJ; Vandenberghe, A.
Ultrastructural protein zero expression in Charcot-Marie-Tooth type 1B disease.
Muscle Nerve. 1999; 22(1):99-104
Doi: 10.1002/(SICI)1097-4598(199901)22:1<99::AID-MUS14>3.0.CO;2-5
(- Case Report)
Web of Science
PubMed
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- Co-Autor*innen der Med Uni Graz
- Archelos-Garcia Juan-Jose
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- Abstract:
- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Amino Acid Substitution -
- Biopsy -
- Charcot-Marie-Tooth Disease - genetics
- Electrophysiology - genetics
- Female - genetics
- Humans - genetics
- Immunohistochemistry - genetics
- Middle Aged - genetics
- Myelin P0 Protein - biosynthesis
- Myelin Sheath - metabolism
- Nerve Fibers - pathology
- Neural Conduction - physiology
- Point Mutation - physiology
- Sural Nerve - metabolism
- Find related publications in this database (Keywords)
- Charcot-Marie-Tooth disease 1B
- immunocytochemical quantification
- protein zero
- ultracryomicrotomy