Article
High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia.
Annales de biologie clinique - 1 Jan 2000
Cherif Wafa, Ben Rhouma Faten, Messai Habib, Mili Amira, Gribaa Moez, Kefi Rym, Ayadi Abdelkarim, Boughamoura Lamia, Chemli Jelel, Saad Ali, Kaabachi Naziha, Sfar Mohamed Tahar, Ben Dridi Marie-Françoise, Tebib Neji, Abdelhak Sonia
Abstract excerpt
Glycogen storage disease type III (GSD III) is an autosomal recessive disorder caused by the deficiency of glycogen debranching enzyme (AGL). It is characterized by hepatomegaly, progressive myopathy, cardiomyopathy and fasting hypoglycemia. Several mutations in AGL gene have been described in different populations. The W1327X mutation was reported in one Tunisian patient resident in Italy. We looked in this...
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