Analysis of molecular pathologic findings in Czech LGMD2A patients

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Authors	JEŘÁBKOVÁ Barbora STEHLÍKOVÁ K. HERMANOVÁ Markéta FAJKUSOVÁ Lenka
Year of publication	2006
Type	Conference abstract
MU Faculty or unit	Faculty of Science
Citation
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-mediated mRNA decay.
Related projects:	Molecular basis of cell and tissue regulations