Brazilian clinicians have compiled clinical data and brain imaging results from patients with merosine deficiency (congenital muscular dystrophy linked to the LAMA2 gene) with a view to establishing potential correlations between muscle phenotype and brain damage:
- fifty-two patients were included in the study, the vast majority of whom were non-ambulatory (85%),
- 19% had significant malformations, 19% had epilepsy and 15% had an intellectual deficit,
- the presence of cortical malformations was significantly correlated with the severity of the muscular phenotype.
In addition, the authors point to the existence of a highly probable genetic founder effect in this cohort.
