https://pubmed.ncbi.nlm.nih.gov/15111675/
Mutations in myotilin cause myofibrillar myopathy
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...
mutationscausemyopathy