- Tytuł:
- A newly identified Thr99fsX110 mutation in the PMP22 gene associated with an atypical phenotype of the hereditary neuropathy with liability to pressure palsies
- Autorzy:
-
Moszyńska, Izabela
Kabzińska, Dagmara
Sinkiewicz-Darol, Elena
Kochański, Andrzej - Powiązania:
- https://bibliotekanauki.pl/articles/1040475.pdf
- Data publikacji:
- 2009
- Wydawca:
- Polskie Towarzystwo Biochemiczne
- Tematy:
-
HNPP neuropathy
PMP22 gene mutations - Opis:
- Hereditary neuropathy with liability to pressure palsies (HNPP) is manifested by a spectrum of phenotypes, from the classical HNPP course associated with intermittent nerve palsies to a neuropathy resembling Charcot-Marie-Tooth type 1 (CMT1) disease. The majority of HNPP cases are associated with submicroscopical deletions in the 17p11.2-p12 region containing the PMP22 gene, while PMP22 point mutations are rare, representing about 15% of HNPP cases. In this study, we present a patient manifesting with atypical HNPP phenotype associated with a new Thr99fsX110 mutation in the PMP22 gene. We conclude that all patients who fulfill the electrophysiological criteria of HNPP, even if they lack the typical HNPP phenotype, should be tested for point mutations in the PMP22 gene.
- Źródło:
-
Acta Biochimica Polonica; 2009, 56, 4; 627-630
0001-527X - Pojawia się w:
- Acta Biochimica Polonica
- Dostawca treści:
- Biblioteka Nauki
Artykuł