Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy

J Neurol Neurosurg Psychiatry. 2005 Jul;76(7):1019-21. doi: 10.1136/jnnp.2004.046110.

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-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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Biopsy
  • DNA Mutational Analysis*
  • Female
  • Genes, Dominant*
  • Humans
  • Lamin Type A
  • Lamins / genetics*
  • Male
  • Muscle, Skeletal / innervation
  • Muscle, Skeletal / pathology
  • Muscular Atrophy / diagnosis
  • Muscular Atrophy / genetics
  • Muscular Atrophy / pathology
  • Muscular Dystrophy, Emery-Dreifuss / diagnosis
  • Muscular Dystrophy, Emery-Dreifuss / genetics*
  • Neurologic Examination
  • Pedigree
  • Peripheral Nervous System Diseases / diagnosis
  • Peripheral Nervous System Diseases / genetics*
  • Peripheral Nervous System Diseases / pathology
  • Phenotype
  • Sural Nerve / pathology

Substances

  • LMNA protein, human
  • Lamin Type A
  • Lamins