peripheral neuropathy
1) Mutations in myotilin cause MFM; 2) exon 2 of MYOT is a hotspot for mutations; 3) peripheral neuropathy, cardiomyopathy, and distal weakness greater than proximal weakness are part of the spectrum of myotilinopathy; 4) not all cases of myotilinopathy have a limb-girdle phenotype; and 5) the molecular basis of the majority of MFM cases remains to be discovered.
1) Mutations in <span class="gene" id="15111675-10-16-24">myotilin</span> cause MFM; 2) exon 2 of <span class="gene" id="15111675-10-49-53">MYOT</span> is a hotspot for mutations; 3) <span class="disease" id="15111675-10-85-106">peripheral neuropathy</span>, cardiomyopathy, and distal weakness greater than proximal weakness are part of the spectrum of myotilinopathy; 4) not all cases of myotilinopathy have a limb-girdle phenotype; and 5) the molecular basis of the majority of MFM cases remains to be discovered.