Type 2 AR: Dominant LMNA mutations can cause combined muscular dystrophy and PN

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J Neurol Neurosurg Psychiatry. 2005 Jul;76(7):1019-21.

Dominant LMNA mutations can cause combined muscular dystrophy and

peripheral neuropathy.

Benedetti S, Bertini E, Iannaccone S, Angelini C, Trisciani M,

Toniolo D, Sferrazza B, Carrera P, Comi G, Ferrari M, Quattrini A,

Previtali SC.

Department of Neurology, San Raffaele Scientific Institute, Via

Olgettina 60, 20132 Milano, Italy.

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.