Analysis of molecular pathologic findings in Czech LGMD2A patients

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14310%2F06%3A00018009" target="_blank" >RIV/00216224:14310/06:00018009 - isvavai.cz</a>

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Analysis of molecular pathologic findings in Czech LGMD2A patients

Original language description

We performed analysis of the CAPN3 gene in LGMD2A patients at both the mRNA level and the DNA level. In 4 patients, we detected homozygous occurence of a missense mutation or an in-frame deletion at the mRNA level although the DNA was heterozygous for this mutation in conjuction with a frame-shift mutation. The relationship observed in 12 patients between the quantity of CAPN3 mRNA and the genotype leads us to propose that CAPN3 mRNAs which contain frame-shift mutations are degraded by nonsense-mediatedmRNA decay.

Czech name

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Czech description

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Type

O - Miscellaneous

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

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Continuities

Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2006

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů