Correlative MR imaging and 31P-MR spectroscopy study in sarcoglycan deficient limb girdle muscular dystrophy

Neuromuscul Disord. 1997 Dec;7(8):505-11. doi: 10.1016/s0960-8966(97)00108-9.

Abstract

We combined magnetic resonance (MR) imaging and phosphorus magnetic resonance spectroscopy (31P-MRS) to study skeletal muscle in seven patients with limb girdle muscular dystrophy (LGMD) with a variable deficiency of the alpha-, beta-, and gamma-sarcoglycan but normal dystrophin expression on muscle biopsy. T1- and T2-weighted spin-echo axial leg images showed the highest degree of fat replacement in soleus, tibialis anterior and peroneal muscles while gastrocnemius and tibialis posterior were less affected. In LGMD patients as a group, calf muscle phosphorylated compound content did not differ from controls, but the cytosolic pH was increased (P = 0.02). The degree of calf muscle fat replacement correlated inversely with cytosolic pH (r = 0.74) and directly with PCr/ATP (r = 0.74). Muscle oxidative metabolism was normal in LGMD patients. Our findings show that primary deficits of sarcoglycan complex lead to specific morphological and metabolic patterns of skeletal muscle involvement.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Female
  • Humans
  • Linear Models
  • Magnetic Resonance Imaging*
  • Magnetic Resonance Spectroscopy / methods*
  • Male
  • Membrane Glycoproteins / deficiency*
  • Muscle, Skeletal / metabolism
  • Muscular Dystrophies / diagnosis*
  • Muscular Dystrophies / metabolism
  • Oxidation-Reduction
  • Phosphorus

Substances

  • Membrane Glycoproteins
  • Phosphorus