Axon damage in CMT due to mutation in myelin protein P0
| Autor: | Clemens Oliver Hanemann, P. De Jonghe, A.A.W.M. Gabreëls-Festen |
|---|---|
| Rok vydání: | 2001 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Biopsy Axonal loss Neural Conduction Sural nerve Cell Count Biology medicine.disease_cause Myelin Sural Nerve Charcot-Marie-Tooth Disease medicine Humans Axon Genetics (clinical) Myelin Sheath Mutation medicine.diagnostic_test Myelin-associated glycoprotein Neuromusculaire en neurometabole aandoeningen Anatomy Middle Aged Immunohistochemistry Axons Myelin-Associated Glycoprotein medicine.anatomical_structure Neurology Amino Acid Substitution Neuromuscular and neurometabolic disorders nervous system Pediatrics Perinatology and Child Health Female Neurology (clinical) Myelin P0 Protein |
| Zdroj: | Neuromuscular Disorders, 11, 8, pp. 753--6 Neuromuscular Disorders, 11, 753--6 Neuromuscular disorders |
| ISSN: | 0960-8966 |
| Popis: | Item does not contain fulltext We describe a family carrying the Thr148Met mutation in the P0 gene. Contrary to other neuropathies caused by myelin gene defects, no demyeliantion could be found in our biopsies. Based on follow up examinations, extensive morphometry and immunohistochemical analysis we suggest that the mild hypomyelination documented in our family secondarily causes axonal degeneration and axonal loss of large and small fibers which predominates the clinical picture. |
| Databáze: | OpenAIRE |
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