Why the study?
What is the frequency and characterization of ANO5 mutations in an Italian cohort of LGMD patients?
What is the frequency and characterization of ANO5 mutations in an Italian cohort of LGMD patients?
ANO5 mutations are a rare cause of LGMD in Italy (~2%), presenting with a distinct molecular epidemiology compared to Northern/Central Europe and a benign clinical course without cardiac impairment.
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Supports regional LGMD genetic testing in Italy; leaves open ancestry-specific ANO5 epidemiology across Europe.
Magri et al. (2012) studied this question.
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