Official websites use .gov
A
.gov website belongs to an official
government organization in the United States.
Secure .gov websites use HTTPS
A lock (
) or https:// means you've safely
connected to the .gov website. Share sensitive
information only on official, secure websites.
Multiplex Ligation‐dependent Probe Amplification (MLPA) confirms CNVs predicted via exome analysis. CNVs predicted in P6, P7, and P8 were tested using MLPA probes for a subset of LAMA2 exons, in parallel to five control sample, two normal skeletal muscle samples and three cases from this study (P1, P2 and P5). A heterozygous duplication spanning from exon 6 to exon 12 was confirmed in P6 (red squares), as were single exon deletions in P7 (blue diamonds) and P8 (green triangles)
