Key result
Calpain-3 and dysferlin protein screening identified calpain-3 deficiency in 16% and dysferlin deficiency in 6.5% of patients with unclassified limb-girdle dystrophy and myopathy.
Population
n=407 candidate muscle biopsies from patients with as yet unclassified limb-girdle muscular dystrophy and…
Design
Cross-sectional
Authors
Loading...
Protein screening may guide genetic testing in unclassified myopathies; leaves open prospective validation before routine adoption.
Cross-Sectional (n=407)
About 25% of previously unclassified dystrophy/myopathy cases are due to calpain-3 or dysferlin protein deficiency, suggesting immunoblot analysis can guide gene mutation studies.
Pegoraro et al. (2001) conducted a cross-sectional in Limb-girdle muscular dystrophy and myopathy (n=407). Calpain-3 and dysferlin protein screening was evaluated on Identification of calpain-3 or dysferlin deficiency. Calpain-3 and dysferlin protein screening identified calpain-3 deficiency in 16% and dysferlin deficiency in 6.5% of patients with unclassified limb-girdle dystrophy and myopathy.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: