C.P.2.13 Widening the LAMA2 mutation spectrum in MDC1A patients: New mutations including gross deletions

Abstract

Congenital muscular dystrophy type 1A (MDC1A, MIM: 607855) is the most frequent form of CMD in the European population accounting for 30–50% of the cases. Major clinical symptoms include hypotonia, elevated CK levels and cerebral white matter changes. The LAMA2 gene [OMIM:156225] implicated in this disease is located in 6q22-q23 and encodes the α2 chain of laminin. Several mutations have been reported, the majority of which are of the nonsense or deletion/duplication type, explaining the complete absence of laminin α2 in muscle biopsies.