Mutation analysis of DYSF revealed novel compound heterozygous mutations of p.Tyr309X and c.236+1G&gt;T in two related MM patients, known homozygous mutations, p.Arg89X and p.Gln176X, in two MM patients and a heterozygous missense mutation, p.Arg555Trp, in a DMAT patient.
C1847532
MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET