G.O.7 A homozygous desmin deletion causes an Emery-Dreifuss like recessive myopathy with desmin depletion

Mutations of the desmin gene (DES) cause desmin-related myopathy (DRM), which is characterized by myofibrillar disruption and desmin-positive protein aggregates in muscle fibers. DRM typically presents with adult-onset and autosomal dominant inheritance. Here we describe an early-onset, recessive myopathy due to a homozygous DES mutation which causes desmin depletion without significant myofibrillar abnormalities.