Co-segregation of LMNA and PMP22 gene mutations in the same family

Elena Pegoraro, Bruno F. Gavassini, Sara Benedetti, Immacolata Menditto, Gabriella Zara, Roberta Padoan, Maria Luisa Mostacciuolo, Maurizio Ferrari, Corrado Angelini

Research output: Contribution to journalArticlepeer-review


We report here clinical, electrophysiological, and molecular findings in a family affected with two inherited genetic diseases: limb girdle muscular dystrophy type 1B (LGMD1B) and hereditary neuropathy with liability to pressure palsies (HNPP). Members of the family carry a novel missense mutation in the LMNA gene and a nonsense mutation in the PMP22 gene. Interestingly, the double LMNA/PMP22 mutations carriers showed clinical features more severe than usually seen in HNPP, and electrophysiological findings suggesting an axonal loss in addition to a typical myelinopathy. This study provides further insights into the relevance of lamin A/C in muscle and nerve.

Original languageEnglish
Pages (from-to)858-862
Number of pages5
JournalNeuromuscular Disorders
Issue number12
Publication statusPublished - Dec 2005


  • HNPP
  • LGMD1B
  • LMNA
  • PMP22

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology


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