Key result
EMD gene nonsense mutations and absence of emerin staining were identified in two male patients presenting with a limb-girdle muscular dystrophy phenotype.
Population
2 male patients with limb-girdle muscular dystrophy phenotype manifesting proximal dominant muscle…
Design
Case_report
Authors
Loading...
May warrant emerin testing in limb-girdle muscular dystrophy; leaves open impact on sudden cardiac death prevention.
Case Report (n=2)
Mutations in the EMD gene can present as a limb-girdle muscular dystrophy phenotype, making it essential to identify emerin deficiency in these patients to prevent sudden cardiac death.
Ura et al. (2007) conducted a case report in Limb-girdle muscular dystrophy (n=2). EMD gene mutations was evaluated on Muscle biopsy and mutation analysis results. EMD gene nonsense mutations and absence of emerin staining were identified in two male patients presenting with a limb-girdle muscular dystrophy phenotype.
Synapse has enriched 2 closely related papers on similar clinical questions. Consider them for comparative context: