TY - JOUR T1 - Dominant <em>LMNA</em> mutations can cause combined muscular dystrophy and peripheral neuropathy JF - Journal of Neurology, Neurosurgery &amp; Psychiatry JO - J Neurol Neurosurg Psychiatry SP - 1019 LP - 1021 DO - 10.1136/jnnp.2004.046110 VL - 76 IS - 7 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 Y1 - 2005/07/01 UR - http://jnnp.bmj.com/content/76/7/1019.abstract N2 - 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. ER -