Early respiratory muscle involvement in LGMDR25: a case report

Neuromuscul Disord. 2022 Aug;32(8):692-696. doi: 10.1016/j.nmd.2022.05.007. Epub 2022 May 17.


Limb girdle muscular dystrophy type R25 (LGMDR25) is a rare genetic disorder due to loss-of-function mutations in BVES, characterized by progressive proximal lower limb weakness and atrioventricular block. Here we report a young Chinese man with LGMDR25 who presented with asymmetrical lower limb weakness, myalgia, palpitations and dyspnea on exertion. Muscle imaging demonstrated fatty infiltration of the long head of biceps femoris, adductor magnus, gastrocnemius and soleus, and myoedema of semitendinosus and quadriceps, sparing rectus femoris. ECG showed only mild sinus tachycardia but pulmonary function test suggested prominent respiratory muscle weakness. Our report expands the phenotypical spectrum and indicates the importance of monitoring respiratory function in LGMDR25 patients.

Keywords: BVES; Muscular dystrophy; POPDC1; Respiratory muscle weakness.

Publication types

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

MeSH terms

  • Cell Adhesion Molecules
  • Humans
  • Magnetic Resonance Imaging* / methods
  • Male
  • Muscle Proteins / genetics
  • Muscle Weakness
  • Muscle, Skeletal / diagnostic imaging
  • Muscular Dystrophies, Limb-Girdle* / genetics
  • Respiratory Muscles
  • Thigh


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