Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene.

@article{Ruggiero2015MuscleFT,
  title={Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene.},
  author={Lucia Ruggiero and Chiara Fiorillo and Alessandra Tessa and Fiore Manganelli and Rosa Iodice and Raffaele Dubbioso and Floriana Vitale and Eugenia Storti and Ernesto Soscia and Filippo Maria Santorelli and Lucio Santoro},
  journal={Muscle & nerve},
  year={2015},
  volume={51 4},
  pages={604-8}
}
INTRODUCTION Mutations in the lamin A/C protein cause laminopathies, a heterogeneous group of disorders that include recessive axonal neuropathy (CMT2B1), Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy (LGMD), dilated cardiomyopathy with conduction defect, and different forms of lipodystrophy and progeria. METHODS We provide clinical, histopathological, muscle imaging, and cardiac features of a family with heterozygous mutation in the LMNA gene. RESULTS We… CONTINUE READING