@article {Benedetti1019, author = {S Benedetti and E Bertini and S Iannaccone and C Angelini and M Trisciani and D Toniolo and B Sferrazza and P Carrera and G Comi and M Ferrari and A Quattrini and S C Previtali}, title = {Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy}, volume = {76}, number = {7}, pages = {1019--1021}, year = {2005}, doi = {10.1136/jnnp.2004.046110}, publisher = {BMJ Publishing Group Ltd}, 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{\textendash}Marie{\textendash}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.}, issn = {0022-3050}, URL = {https://jnnp.bmj.com/content/76/7/1019}, eprint = {https://jnnp.bmj.com/content/76/7/1019.full.pdf}, journal = {Journal of Neurology, Neurosurgery \& Psychiatry} }