We report a fetus with spinal muscular atrophy type I, who presented with an increased nuchal translucency at 13 weeks' gestation. A review of the literature reveals additional cases of spinal muscular atrophy type I associated with increased nuchal translucency and suggests increased nuchal translu
✦ LIBER ✦
The association of spinal muscular atrophy type II and increased nuchal translucency
✍ Scribed by E. A. P. de Jong-Pleij; P. Stoutenbeek; N. N. van der Mark-Batseva; M. A. Müller; L. Ribbert
- Book ID
- 114435192
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 58 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0960-7692
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## Abstract A man with spinal and bulbar muscular atrophy (SBMA) had a short (CTG)n expansion in the myotonic dystrophy protein kinase gene as well as (CAG)n expansion in the androgen receptor gene in leukocytes. The patient had the characteristic clinical findings of SBMA, but none of myotonic dys