Surprising genotype expressed as a common limb-girdle muscular dystrophy

Abstract

Limb-girdle muscular dystrophies (LGMDs) comprise a phenotypical spectrum of muscular dystrophies with a high degree of genotypical variability. We describe the case of a 56-year-old male with a history and clinical picture suggestive for LGMD with skeletal and cardiologic involvement. Histopathological examination shows a severe dystrophic picture and genetics testing revealed a unique never reported genotype association: a homozygous variant in the DES gene, associated with myofibrillar myopathy type 1 and LGMD2R, as well as a heterozygous variant in the CRYAB gene, associated with myofibrillar myopathy type 2, both of which could be responsible for the clinical picture.

Keywords

• limb-girdle muscular dystrophy
• lgmd2r
• myofibrillar myopathy (mmf)
• cryab