PT  - JOURNAL ARTICLE
AU  - S Benedetti
AU  - E Bertini
AU  - S Iannaccone
AU  - C Angelini
AU  - M Trisciani
AU  - D Toniolo
AU  - B Sferrazza
AU  - P Carrera
AU  - G Comi
AU  - M Ferrari
AU  - A Quattrini
AU  - S C Previtali
TI  - Dominant <em>LMNA</em> mutations can cause combined muscular dystrophy and peripheral neuropathy
AID  - 10.1136/jnnp.2004.046110
DP  - 2005 Jul 01
TA  - Journal of Neurology, Neurosurgery & Psychiatry
PG  - 1019--1021
VI  - 76
IP  - 7
4099  - http://jnnp.bmj.com/content/76/7/1019.short
4100  - http://jnnp.bmj.com/content/76/7/1019.full
SO  - J Neurol Neurosurg Psychiatry2005 Jul 01; 76
AB  - 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.