Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy

@inproceedings{Ardissone2013NovelPM,
  title={Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy},
  author={Anna Ardissone and Cinzia Bragato and Lorella G Caffi and Flavia Blasevich and Sabrina Maestrini and Maria Luisa Bianchi and Lucia Ovidia Morandi and Isabella Moroni and Marina Mora},
  booktitle={BMC Medical Genetics},
  year={2013}
}
Mutations in the PTRF gene, coding for cavin-1, cause congenital generalized lipodystrophy type 4 (CGL4) associated with myopathy. In CGL4, symptoms are variable comprising, in addition to myopathy, smooth and skeletal muscle hypertrophy, cardiac arrhythmias, and skeletal abnormalities. Secondary features are atlantoaxial instability, acanthosis nigricans, hepatomegaly, umbilical prominence and metabolic abnormalities related to insulin resistance, such as diabetes mellitus, hyperlipidemia and… CONTINUE READING
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