The gene responsible for facioscapulohumeral muscular dystrophy (FSHD) was mapped to chromosome 4q35 by linkage analyses. Recently, the probe p13E-11 derived from the cosmid clone 13E, which has been mapped to 4qter, detected a polymorphic EcoRI fragment, usually greater than 28 kb in normal individuals. In sporadic and familial FSHD patients, a specific shorter fragment, usually smaller than 28 kb, was found to cosegregate with FSHD. Two FSHD patients are presented here. Patient 1 is a sporadic case of FSHD with healthy parents. He had a de novo mutation identified by Southern blot analysis using the above-mentioned probe. Patient 2 is a typical familial FSHD patient clinically and histologically. A rearranged and shortened EcoRI fragment was identified by molecular analysis. Southern blot analysis using the probe p13E-11 also indicated a rearranged EcoRI fragment in both patients.