Journal
NEUROMUSCULAR DISORDERS
Volume 22, Issue 2, Pages 149-151Publisher
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2011.08.009
Keywords
A-type lamin; LMNA; L-CMD; Congenital muscular dystrophy; Dropped head; Brain abnormality
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Funding
- Grants-in-Aid for Scientific Research [22790560] Funding Source: KAKEN
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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. (c) 2011 Elsevier B.V. All rights reserved.
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