New mutation of the desmin gene identified in an extended Indian pedigree presenting with distal myopathy and cardiac disease.
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.
Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
Atchayaram
A
Nalini
Narayanappa
N
Gayathri
Pascale
P
Richard
Ana-Maria
AM
Cobo
J Andoni
JA
Urtizberea
D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D009202:Cardiomyopathies / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D003893:Desmin / Q000235:genetics*; D005260:Female; D006801:Humans; D007194:India; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D009154:Mutation; D010375:Pedigree
D003893:Desmin