1.
[Selenoprotein-related muscular dystrophy].
Hansen, LK, Schrøder, H, Ousager, L
Ugeskrift for laeger. 2011;(48):3116-7
Abstract
A nine year-old girl with selenoprotein-related muscular dystrophy was diagnosed. The primary symptom was weak neck muscles. During childhood she developed a rigid spine and over a period of a few years a severe scoliosis. She was compound heterozygote for a mutation in the SEPN1 gene. Experimental treatment with N-acetylcystein for a period of two years was initiated.