Publication details
Analysis of molecular pathologic findings in Czech LGMD2A patients
| Authors | |
|---|---|
| Year of publication | 2006 |
| Type | Conference abstract |
| MU Faculty or unit | |
| 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. |
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