RT Journal Article SR Electronic T1 Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy JF Journal of Neurology, Neurosurgery & Psychiatry JO J Neurol Neurosurg Psychiatry FD BMJ Publishing Group Ltd SP 1019 OP 1021 DO 10.1136/jnnp.2004.046110 VO 76 IS 7 A1 S Benedetti A1 E Bertini A1 S Iannaccone A1 C Angelini A1 M Trisciani A1 D Toniolo A1 B Sferrazza A1 P Carrera A1 G Comi A1 M Ferrari A1 A Quattrini A1 S C Previtali YR 2005 UL http://jnnp.bmj.com/content/76/7/1019.abstract 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.