Term Name:	epidermolysis bullosa simplex with muscular dystrophy
Synonyms:	epidermolysis bullosa simplex and limb-girdle muscular dystrophy, limb-girdle muscular dystrophy with epidermolysis bullosa simplex
Definition:	An syndrome characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24.
Ontology:	Human Disease [DOID:0090017]   ( DOID:0090017 )