Two Japanese LGMDR25 patients with a biallelic recurrent nonsense variant of BVES

Neuromuscul Disord. 2020 Aug;30(8):674-679. doi: 10.1016/j.nmd.2020.06.004. Epub 2020 Jun 13.

Abstract

We report two Japanese patients with autosomal recessive limb-girdle muscular dystrophy type R25 (LGMDR25), harboring a novel recurrent homozygous nonsense variant of BVES. Muscle symptoms manifested from childhood to adulthood, initiated in the proximal or distal muscles of the lower limbs, and displayed asymmetric muscle involvement. Similar to the patients in previous reports, these patients also lost ambulation in late middle age. The posterior compartment of the lower limb muscles (biceps femoris, adductor magnus, gastrocnemius, and soleus) was preferentially affected as was the paraspinal muscle. Muscles in the anterior compartment of the thigh were affected in more advanced stages. Both patients had symptomatic atrioventricular block. The POPDC1 protein was undetectable in the muscles of the patients. As observed by transmission electron microscopy, one of the patient samples had fewer caveolae along the sarcolemma than a control sample.

Keywords: BVES; POPDC1; caveolae; muscular dystrophy.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Cell Adhesion Molecules / genetics*
  • Humans
  • Japan
  • Lower Extremity / pathology
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Muscle Proteins / genetics*
  • Muscle Weakness
  • Muscle, Skeletal / pathology
  • Muscular Dystrophies, Limb-Girdle / diagnosis*
  • Muscular Dystrophies, Limb-Girdle / genetics

Substances

  • BVES protein, human
  • Cell Adhesion Molecules
  • Muscle Proteins

Supplementary concepts

  • Limb-girdle muscular dystrophy autosomal recessive