A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement

作者：Hattori Ayako; Komaki Hirofumi^*; Kawatani Masao; Sakuma Hiroshi; Saito Yoshiaki; Nakagawa Eiji; Sugai Kenji; Sasaki Masayuki; Hayashi Yukiko K; Nonaka Ikuya; Nishino Ichizo

来源：Neuromuscular Disorders, 2012, 22(2): 149-151.

DOI：10.1016/j.nmd.2011.08.009

• A-type lamin
• LMNA
• L-CMD
• Congenital muscular dystrophy
• Dropped head
• Brain abnormality

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.

• 出版日期2012-2