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Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy
  1. S Benedetti1,
  2. E Bertini2,
  3. S Iannaccone3,
  4. C Angelini4,
  5. M Trisciani5,
  6. D Toniolo6,
  7. B Sferrazza3,
  8. P Carrera5,
  9. G Comi3,
  10. M Ferrari1,5,
  11. A Quattrini3,
  12. S C Previtali3
  1. 1Laboratory of Clinical Molecular Biology, Diagnostica e Ricerca San Raffaele, Milano, Italy
  2. 2Unit of Molecular Medicine, Ospedale Bambino Gesù, Roma, Italy
  3. 3Department of Neurology, IRCCS San Raffaele Scientific Institute, Milano, Italy
  4. 4Department of Neurosciences, University of Padova, Padova, Italy
  5. 5Unit for Genomics for Human Disease Diagnosis, IRCCS San Raffaele Scientific Institute, Milano, Italy
  6. 6Dibit, IRCCS San Raffaele Scientific Institute, Milano, Italy
  1. Correspondence to:
 Stefano C. Previtali
 Department of Neurology, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milano, Italy;


The coexistence of neurogenic and myogenic features in scapuloperoneal syndrome is rarely ascribed to a single gene. Defects in the nuclear envelope protein lamin A/C, encoded by the LMNA gene, have been shown to be associated with a variety of disorders affecting mainly the muscular and adipose tissues and, more recently, with autosomal recessive Charcot–Marie–Tooth type 2 neuropathy. This report is about a patient presenting features of myopathy and neuropathy due to a dominant LMNA mutation, suggesting that the peripheral nerve might be affected in primary LMNA myopathy. Our observations further support the marked intrafamilial and interfamilial phenotypic heterogeneity associated with lamin A/C defects.

  • CMT
  • lamin
  • myopathy
  • neuropathy

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  • Grant support from Italian Telethon (SCP GGP030193; CA no. GTF02009); FISM (SCP 2002/R/42).

  • Competing interests: none declared

  • Patients’ consent was obtained