Dysferlin expression in monocytes: a source of mRNA for mutation analysis
N De Luna, A Freixas, P Gallano, L Caselles… - Neuromuscular …, 2007 - Elsevier
Dysferlin protein is expressed in peripheral blood monocytes. The genomic analysis of the
DYSF gene has proved to be time consuming because it has 55 exons. We designed a
mutational screening strategy based on cDNA from monocytes to find out whether the
mutational analysis could be performed in mRNA from a source less invasive than the
muscle biopsy. We studied 34 patients from 23 families diagnosed with dysferlinopathy. The
diagnosis was based on clinical findings and on the absence of protein expression using …
DYSF gene has proved to be time consuming because it has 55 exons. We designed a
mutational screening strategy based on cDNA from monocytes to find out whether the
mutational analysis could be performed in mRNA from a source less invasive than the
muscle biopsy. We studied 34 patients from 23 families diagnosed with dysferlinopathy. The
diagnosis was based on clinical findings and on the absence of protein expression using …