Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy
- S Benedetti1,
- E Bertini2,
- S Iannaccone3,
- C Angelini4,
- M Trisciani5,
- D Toniolo6,
- B Sferrazza3,
- P Carrera5,
- G Comi3,
- M Ferrari1,5,
- A Quattrini3,
- S C Previtali3
- 1Laboratory of Clinical Molecular Biology, Diagnostica e Ricerca San Raffaele, Milano, Italy
- 2Unit of Molecular Medicine, Ospedale Bambino Gesù, Roma, Italy
- 3Department of Neurology, IRCCS San Raffaele Scientific Institute, Milano, Italy
- 4Department of Neurosciences, University of Padova, Padova, Italy
- 5Unit for Genomics for Human Disease Diagnosis, IRCCS San Raffaele Scientific Institute, Milano, Italy
- 6Dibit, IRCCS San Raffaele Scientific Institute, Milano, Italy
- Correspondence to: Stefano C. Previtali Department of Neurology, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milano, Italy; previtali.stefanohsr.it
- Received 21 May 2004
- Accepted 13 October 2004
- Revised 9 September 2004
Abstract
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.
Footnotes
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Grant support from Italian Telethon (SCP GGP030193; CA no. GTF02009); FISM (SCP 2002/R/42).
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Competing interests: none declared
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Patients’ consent was obtained
