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.
journal_name
Neurol Indiajournal_title
Neurology Indiaauthors
Nalini A,Gayathri N,Richard P,Cobo AM,Urtizberea JAdoi
10.4103/0028-3886.125269subject
Has Abstractpub_date
2013-11-01 00:00:00pages
622-6issue
6eissn
0028-3886issn
1998-4022pii
ni_2013_61_6_622_125269journal_volume
61pub_type
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