Clinicopathological analysis of the homozygous p.W1327X AGL mutation in glycogen storage disease type 3

American Journal of Medical Genetics, Part A

Volumn 146, Issue 22, 2008, Pages 2911-2915

  Schoser, Benedikt ^a   Gläser, Dieter ^b   Müller Höcker, Josef ^c  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b Gregor Mendel Laboratories   (Germany)

^c UNIVERSITY OF MUNICH   (Germany)

Author keywords

Cardiomyopathy; Debranching enzyme; Glycogenosis type 3; Histopathology; Liver cirrhosis; MRI

Indexed keywords

GADOLINIUM PENTETATE; GLYCOGEN;

ARTICLE; CARDIOMYOPATHY; CASE REPORT; CHILD; CONTRAST ENHANCEMENT; FAMILY HISTORY; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 3; HEPATOMEGALY; HISTOPATHOLOGY; HUMAN; IMAGING SYSTEM; LIVER CIRRHOSIS; MALE; MYOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PEDIGREE ANALYSIS; PRIORITY JOURNAL;

ADULT; AGED; AMINO ACID SUBSTITUTION; CHILD; CHILD, PRESCHOOL; FEMALE; GLYCOGEN DEBRANCHING ENZYME SYSTEM; GLYCOGEN STORAGE DISEASE TYPE III; HOMOZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; POINT MUTATION;

EID: 56049092352     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32529     Document Type: Article

References (11)

1. DiMauro S, Hartwig GB, Hays A, Eastwood AB, Franco R, Olarte M, Chang M, Roses AD, Fetell M, Schoenfeldt RS, Stern LZ. 1979. Debrancher deficiency: Neuromuscular disorder in 5 adults. Ann Neurol 5:422-436.
2. Dubowitz V, Sewry CA. 2007. Muscle biopsy. 3rd edition. New York: Saunders.
3. Endo Y, Fateen E, Aoyama Y, Horinishi A, Ebara T, Murase T, Shin YS, Okubo M. 2005. Molecular characterization of Egyptian patients with gylcogen storage disease type IIIa. J Hum Genet 50:538-542.
4. Endo Y, Horinishi A, Vorgerd M, Aoyama Y, Ebara T, Murase T, Odawara M, Podskarbi T, Shin YS, Okubo M. 2006. Molecular analysis of the AGL gene. Heterogeneity of mutations in patients with glycogen storage disease type 3 from Germany, Canada, Afghanistan, Iran and Turkey. J Hum Genet 51:958-963.
5. Kiechl S, Kohlendorfer U, Thaler C, Skladal D, Jaksch M, Obermaier-Kusser B, Willeit J. 1999. Different clinical aspects of debrancher deficiency myopathy. J Neurol Neurosurg Psychiatry 67:364-368.
6. Lam CW, Lee AT, Lam YY, Wong TW, Mak TW, Fung WC, Chan KC, Ho CS, Tong SF. 2004. DNA-based subtyping of glycogen storage disease type 3: Mutation and haplotype analysis of the AGL gene in Chinese. Mol Genet Metabol 83:271-275.
7. Lucchiari S, Fogh I, Prelle A, Parini R, Bresolin N, Melis D, Fiori L, Scarlato G, Comi GP. 2002a. Clinical and genetic variability of glycogen storage disease type 3a: Seven novel AGL gene mutations in the Mediterranean area. Am J Med Genet 109:183-190.
8. Lucchiari S, Donati MA, Parini R, Melis D, Gatti R, Bresolin N, Scarlato G, Comi GP. 2002b. Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL. Hum Mutat 20:480.
9. Shaiu W-L, Kishnani PS, Shen J, Liu HM, Chen YT. 2000. Genotype-phenotype correlation in two frequent mutations and mutation update in type 3 glycogen storage disease. Mol Genet Metabol 69:16-123.
10. Shen JJ, Chen Y-T. 2002. Molecular characterization of glycogen storage disease type 3. Cur Mol Med 2:167-175.
11. Shin YS. 2006. Glycogen storage disease: Clinical, biochemical, and molecular heterogeneity. Semin Pediatr Neurol 13:115-120.