SHORT REPORT

Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy

S Benedetti¹, E Bertini², S Iannaccone³, C Angelini⁴, M Trisciani⁵, D Toniolo⁶, B Sferrazza³, P Carrera⁵, G Comi³, M Ferrari^1,5, A Quattrini³ and S C Previtali³

¹ Laboratory of Clinical Molecular Biology, Diagnostica e Ricerca San Raffaele, Milano, Italy
² Unit of Molecular Medicine, Ospedale Bambino Gesù, Roma, Italy
³ Department of Neurology, IRCCS San Raffaele Scientific Institute, Milano, Italy
⁴ Department of Neurosciences, University of Padova, Padova, Italy
⁵ Unit for Genomics for Human Disease Diagnosis, IRCCS San Raffaele Scientific Institute, Milano, Italy
⁶ Dibit, IRCCS San Raffaele Scientific Institute, Milano, Italy

Correspondence to:
Correspondence to:
Stefano C. Previtali
Department of Neurology, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milano, Italy; previtali.stefano{at}hsr.it

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.

Keywords: CMT; lamin; myopathy; neuropathy

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Dominant / recessive LMNA mutations causing isolated or combined neuropathic and myopathic condition

Rabah Ben Yaou, et al.

JNNP Online, 20 Jul 2005 [Full text]