Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation
✍ Scribed by Giovanni Coppola; Chiara Criscuolo; Giuseppe De Michele; Salvatore Striano; Fabrizio Barbieri; Pasquale Striano; Anna Perretti; Lucio Santoro; Vincenzo Brescia Morra; Francesco Saccà; Valentina Scarano; Adamo P. D’Adamo; Sandro Banfi; Paolo Gasparini; Filippo M. Santorelli; Anna E. Lehesjoki; Alessandro Filla
- Publisher
- Springer
- Year
- 2005
- Tongue
- English
- Weight
- 283 KB
- Volume
- 252
- Category
- Article
- ISSN
- 0340-5354
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Two sisters had developmental retardation and congenital hepatic fibrosis. One, 23 years old, had facial anomalies reminiscent of Smith-Lemli-Opitz syndrome, ocular coloboma, and hypoplastic kidneys with a single cyst. The other sister died at 18 months and had an encephalocele and cystically dilate