A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement

Neuromuscul Disord. 2012 Feb;22(2):149-51. doi: 10.1016/j.nmd.2011.08.009. Epub 2012 Jan 11.


We describe a 22-month-old girl with axial muscle and diaphragmatic weakness as well as motor developmental delay without mental retardation. The striking clinical feature was a dropped head, although she could walk unaided. T2/FLAIR brain MRI revealed a focal abnormality with high signal intensity in the white matter including U-fibers. A muscle biopsy showed active necrotic and regenerative processes. These distinct clinical findings prompted a mutational analysis of the lamin A (LMNA) gene, and we identified a novel heterozygous mutation in LMNA (c.1330_1338dup9). This is the first report of an Asian patient with LMNA-related congenital muscular dystrophy (L-CMD) and a dropped head.

Publication types

  • Case Reports

MeSH terms

  • Brain / pathology
  • DNA Mutational Analysis
  • Female
  • Head
  • Humans
  • Infant
  • Lamin Type A / genetics*
  • Magnetic Resonance Imaging
  • Muscle Weakness / congenital*
  • Muscle Weakness / diagnosis*
  • Muscle Weakness / genetics
  • Muscle, Skeletal / pathology
  • Muscular Dystrophies / congenital*
  • Muscular Dystrophies / diagnosis*
  • Muscular Dystrophies / genetics
  • Mutation*


  • Lamin Type A