Deficiency of glycogen debranching enzyme gene (AGL) causes glycogen storage disease type III (GSD-III), an autosomal recessive disease. Prenatal diagnosis and carrier detection using enzymatic methods are technically difficult and have limited ability to distinguish a carrier from an affected patie
Prenatal diagnosis for Canavan disease: the use of DNA markers
โ Scribed by R. Matalon; R. Kaul; G. P. Gao; K. Michals; R. G. F. Gray; S. Bennett-Briton; A. Norman; M. Smith; C. Jakobs
- Publisher
- Springer
- Year
- 1995
- Tongue
- English
- Weight
- 162 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0141-8955
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X-linked myotubular myopathy (MTM 1) is a severe congenital myopathy characterized by hypotonia, muscle weakness, and associated respiratory insufficiency. Pennatal death is common. The disease locus was shown to be linked to polymorphic markers in Xq28 and we have recently refined the MTMl locus to
Deficiency of glycogen branching enzyme activity causes glycogen storage disease type IV (GSD-IV). Clinically, GSD-IV has variable clinical presentations ranging from a fatal neonatal neuromuscular disease, to a progressive liver cirrhosis form, and to a milder liver disease without progression. Cur