Mutational spectrum of CHM characterized families.

<p>Mutational spectrum of CHM characterized families.</p

Molecular strategy followed up for the diagnosis of CHM families.

<p>Molecular strategy followed up for the diagnosis of CHM families.</p

Haplotypes from families presenting the recurrent <i>CHM</i> mutations.

<p>Identified pedigrees carrying the exon 9 deletion <b>(A)</b>, the p.Arg293* <b>(B)</b> and the p.Lys178Argfs*5 <b>(C)</b> mutations are shown. For exon 9 deletion, haplotypes analysis demonstrated identity by descent in the Spanish families RP-1310, RP-1560 and RP-2128 but independent origin for the Portuguese family RP-0779, defined by the alleles located along the black bar. For the p.Arg293* and p.Lys178Argfs*5 mutations, haplotypes indicates an independent origin for both variants defined by the alleles located along the black bar.</p

Clinical findings identified in affected individuals carrying mutations in the <i>CHM</i> gene.

<p>Clinical findings identified in affected individuals carrying mutations in the <i>CHM</i> gene.</p