Hansen, Lars Kjærsgaard2; Schrøder, Henrik2; Ousager, Lilian Bomme3
1 Human Genetics, Department of Clinical Research, Det Sundhedsvidenskabelige Fakultet, SDU2 unknown3 Human Genetics, Department of Clinical Research, Det Sundhedsvidenskabelige Fakultet, SDU
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.
Ugeskrift for Laeger, 2011, Vol 173, Issue 48, p. 3116-3117