| Autor: |
Kraner, Simone, Laufenberg, Iris, Straßburg, Hans M., Sieb, Joern P., Steinlein, Ortrud K. |
| Předmět: |
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| Zdroj: |
Archives of Neurology; May2003, Vol. 60 Issue 5, p761, 3p |
| Abstrakt: |
Background: The syndrome of congenital myasthenia with episodic apnea (CMS-EA) was previously found to be due to mutations in the choline acetyltransferase gene (CHAT). Objective: To identify the mutations underlying CMS-EA in a Turkish multiplex family. Design: Direct sequencing of the CHAT gene. Patients: A consanguineous Turkish family with 2 siblings affected by muscular weakness and episodic respiratory distress. Results: The sequencing of CHAT coding exons identified a previously unknown missense mutation that affected a highly conserved amino acid residue (I336T). The mutation was absent in 164 control chromosomes. Conclusions: The high degree of conservation in different species strongly suggests that I336T is a functionally important amino acid residue. The absence of I336T from a large control sample further supports the pathogenic role of I336T in CMS-EA. This is the second report of CHAT mutations causing presynaptic CMS. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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