New mutation of the desmin gene identified in an extended Indian pedigree presenting with distal myopathy and cardiac disease

Neurol India. 2013 Nov-Dec;61(6):622-6. doi: 10.4103/0028-3886.125269.

Abstract

In this report, we describe a new mutation located in the coiled 1B domain of desmin and associated with a predominant cardiac involvement and a high degree of cardiac sudden death in a large Indian pedigree with 12 affected members. The index cases was 38-year-old man who presented with progressive difficulty in gripping footwear of 5 years duration with the onset in the left lower limb followed by right lower limb in 6 months. 3 years from onset, he developed lower limb proximal and truncal muscle weakness. There was mild atrophy of the shoulder girdle muscles with grade 3 weakness, moderate wasting of thigh and anterior leg muscles with proximal muscle weakness and foot drop. At 40 years, he had a pacemaker implanted. The 9 exons and intronic boundaries of the desmin gene were sequenced and a heterozygous nucleotide change c. 734A > G in exon 3 was identified.

MeSH terms

  • Adult
  • Asian People / genetics
  • Base Sequence
  • Cardiomyopathies / genetics*
  • Cardiomyopathies / pathology
  • Cardiomyopathies / physiopathology
  • Desmin / genetics*
  • Female
  • Humans
  • India
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / pathology
  • Muscular Dystrophies / physiopathology
  • Mutation*
  • Pedigree

Substances

  • Desmin

Supplementary concepts

  • Myopathy, Myofibrillar, Desmin-Related