Key result
Novel null mutations in the PTRF gene result in a phenotype of generalized lipodystrophy, myopathy, cardiac arrhythmias, atlantoaxial instability, and pyloric stenosis.
Case Report (n=5)
Novel null mutations in the PTRF gene cause a unique phenotype of congenital generalized lipodystrophy type 4, characterized by myopathy, metabolic derangements, and cardiac arrhythmias.
No takes yet. Share an insight, caveat, or question.
Clinicians should consider PTRF sequencing in lipodystrophy with arrhythmias and instability; extends CGL4 spectrum but remains hypothesis-generating.
Shastry et al. (2010) conducted a case report in Congenital generalized lipodystrophy, type 4 (CGL4) (n=5). PTRF mutations was evaluated on Phenotypic characteristics. Novel null mutations in the PTRF gene result in a phenotype of generalized lipodystrophy, myopathy, cardiac arrhythmias, atlantoaxial instability, and pyloric stenosis.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: