We reported an age 32 male with progressive proximal muscle weakness. The serum creatine kinase was 1,908 IU/L. The muscle biopsy from biceps brachii muscle showed nonspecific myopathic changes. The whole exome sequencing identified a heterozygous variant (c.296A>C) in CAV3. It was previously reported as a likely pathogenic variant. It was also detected in the male’s mother and brother. However, his mother and brother had only hyperCKemia without muscle weakness. Our case showed phenotypic heterogeneity in a family, with the same variant in CAV3.

Muscle pathology findings may guide the diagnosis of neuromuscular disorders since they are helpful for understanding the pathological processes causing muscle weakness and also provide significant clues for the diagnosis of muscle diseases. Recent advances in molecular genetics mean that a muscle biopsy can be omitted when diagnosing inherited muscle diseases. However, the muscle pathology can still play a role in those cases and its findings are also required when diagnosing inflammatory myopathies.

Citations

• Sarcolemmal Excitability Properties of the Trapezius
  Mitchell J. Lycett, James Lee, Robert Boland‐Freitas, Karl Ng
  Muscle & Nerve.2025; 71(4): 600.     CrossRef
• Redox-active metals and oxidative stress–mediated myopathies in Callinectes amnicola, blue crab populations from impacted sites of the Lagos Lagoon: inferences for adverse ecological outcomes
  Azubuike Victor Chukwuka, Fisayo C. Jerome, Adesola Hassan, Benjamin Ebonwu, Aina O. Adeogun
  Environmental Science and Pollution Research.2023; 30(50): 108565.     CrossRef

The limb girdle muscular dystrophy (LGMD) is a heterogeneous group of genetically determined disorders characterized by progressive weakness and atrophy predominantly impacting the shoulder and pelvic girdles. Their classification has been revised in recent years because of advances in understanding the molecular basis of the various subtypes of LGMD. The similarities of clinical features and muscle pathology between the diverse subtypes may cause confusion and difficulty relative to differential diagnosis by clinicians. The recognition of the characteristics of each of the subtypes and approaches to precise diagnosis based on available biochemical and molecular testing will allow directed management for each patient by predicting specific complications such as cardiac or respiratory systems, and in the future will be a beginning for specific gene and protein based therapies. Through the extensive review of literature, recent developments of LGMD regarding diagnosis and treatment are summarized.