Cardioembolic stroke related to limb-girdle muscular dystrophy 1B
Journal
BMC Research Notes
Journal Volume
6
Journal Issue
1
Pages
32
ISSN
1756-0500
Date Issued
2013
Author(s)
Abstract
BACKGROUND: Cardioembolic stroke is an under-recognized complication in patients with limb-girdle muscular dystrophy 1B. Here we present a young stroke patient who had a novel lamin A/C gene (LMNA) mutation. CASE PRESENTATION: This is a 39-year-old man who had slowly progressive proximal muscle weakness and cardiac arrhythmia since adolescent and a family history of similar manifestation. He sustained acute ischemic stroke in the left middle cerebral artery territory. Intravenous recombinant tissue plasminogen activator therapy was given with significant neurological improvement. Additionally, genetic sequencing of the LMNA gene of the patient identified a mutation in c.513+1 G>A that resulted in a splicing aberration. CONCLUSION: We suggested that LMNA gene related myopathies should be considered in young stroke patients with long-standing myopathic features.
SDGs
Type
journal article