Corrigendum to "Unclassified polysaccharidosis of the heart and skeletal muscle in siblings" [Mol. Genet. Metabol. 95 (2008) 52-58] (DOI:10.1016/j.ymgme.2008.07.005);Unclassified polysaccharidosis of the heart and skeletal muscle in siblings

Molecular Genetics and Metabolism

Volumn 95, Issue 1-2, 2008, Pages 52-58

  Schoser, Benedikt ^a   Bruno, Claudio ^b   Schneider, Hans Christian ^c   Shin, Yoon S ^d   Podskarbi, Teodor ^d   Goldfarb, Lev ^e   Müller Felber, Wolfgang ^a   Müller Höcker, Josef ^f  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b UNIVERSITY OF GENOA   (Italy)

^c Department of Paediatrics   (Germany)

^d Molecular Genetics and Metabolism Laboratory   (Germany)

^e NATIONAL INSTITUTES OF HEALTH   (United States)

^f UNIVERSITY OF MUNICH   (Germany)

Author keywords

Cardiomyopathy; Glycogenosis type 4; Heart transplantation; Idiopathic polysaccharide storage disease; Polyglucosan body

Indexed keywords

1,4 ALPHA GLUCAN BRANCHING ENZYME; 6 PHOSPHOFRUCTOKINASE; AMYLASE; AMYLOPECTIN; CREATINE KINASE; CRYSTALLIN; DESMIN; GLUCOSE POLYMER; GLYCOGEN; LIVER ENZYME; LYSOSOME ASSOCIATED MEMBRANE PROTEIN 2; MYOGLOBIN; PROTEINASE K; TROPONIN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHEMICAL ANALYSIS; CONGESTIVE CARDIOMYOPATHY; DYSPNEA; ECHOCARDIOGRAPHY; ELECTRON MICROSCOPY; ENZYME ACTIVITY; ENZYME DEGRADATION; EXERCISE TOLERANCE; FEMALE; FOLLOW UP; GENE SEQUENCE; GENETIC ANALYSIS; GLYCOGEN STORAGE DISEASE; GLYCOGEN SYNTHESIS; HEART ARRHYTHMIA; HEART EJECTION FRACTION; HEART MUSCLE POLYSACCHARIDOSIS; HEART TRANSPLANTATION; HUMAN; HUMAN TISSUE; MALE; MUSCLE ATROPHY; MUSCLE TISSUE; MYOPATHY; NEUROLOGIC EXAMINATION; PERIPHERAL EDEMA; PRIORITY JOURNAL; SIBLING; SKELETAL MUSCLE POLYSACCHARIDOSIS;

EID: 51649107501     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.02.004     Document Type: Erratum

References (20)

1. Shin Y.S. Glycogen storage disease: clinical, biochemical, and molecular heterogeneity. Semin. Pediatr. Neurol. 13 (2006) 115-120
2. Bannayan G.A., Dean W.J., and Howell R.R. Type IV glycogen-storage disease: light-microscopic and enzymatic study. Am. J. Clin. Pathol. 66 (1976) 702-709
3. Bruno C., van Diggelen O.P., Cassandrini D., Gimpelev M., Giuffrè B., Donati M.A., Introvini P., Alegria A., Assereto S., Morandi L., Mora M., Tonoli E., Mascelli S., Traverso M., Pasquini E., Bado M., Vilarinho L., van Noort G., Mosca F., DiMauro S., Zara F., and Minetti C. Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). Neurology 63 (2004) 1053-1058
4. Levin B., Burgess E.A., and Mortimer P.E. Glycogen storage disease type IV, amylopectinosis. Arch. Dis. Child 43 (1968) 548-555
5. Moses S.W., and Parvari R. The variable presentations of glycogen storage disease type 4: a review of clinical, enzymatic and molecular studies. Curr. Mol. Med. 2 (2002) 177-188
6. Reusche E., Aksu F., Goebel H.H., Shin Y.S., Yokota T., and Reichmann H. A mild juvenile variant of type IV glycogenosis. Brain Dev. 14 (1992) 36-43
7. Schochet Jr. S.S., McCormick W.F., and Zellweger H. Type IV glycogenosis (amylopectinosis): light and electron microscopic observations. Arch. Pathol. 90 (1970) 354-363
8. Tay S.K.H., Akman H.O., Chung W.K., Pike M.G., Muntoni F., Hays A.P., Shanske S., Valberg S.J., Mickelson J.R., Tanji K., and DiMauro S. Fatal infantile neuromuscular presentation of glycogen storage disease type IV. Neuromuscle Disord. 14 (2004) 253-260
9. Weis J., and Schröder J.M. Adult polyglucosan body myopathy with subclinical peripheral neuropathy: case report and review of disease associated with polyglucosan body accumulation. Clin. Neuropathol. 7 (1988) 271-279
10. Raben N., Danon M., Lu M., Lee E., Shliselfeld L., Skurat A.V., Roach P.J., Lawrence Jr. J.C., Musumeci O., Shanske S., DiMauro S., and Plotz P. Surprises of genetic engineering: a possible model of polyglucosan body disease. Neurology 56 (2001) 1739-1745
11. Arad M., Benson W.D., Perez-Atayde A.R., McKenna W.J., Sparks E.A., Kanter R.J., McGarry K., Seidman J.G., and Seidman C.E. Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. J. Clin. Invest. 109 (2002) 357-362
12. Arad M., Moskowitz I.P., Patel V.V., Ahmad F., Perez-Atayde A.R., Sawyer D.B., Walter M., Li G.H., Burgon P.G., Maguire C.T., Stapleton D., Schmitt J.P., Guo X.X., Pizard A., Kupershmidt S., Roden D.M., Berul C.I., Seidman C.E., and Seidman J.G. Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy. Circulation 107 (2003) 2850-2856
13. Gollob M.H. Glycogen storage disease as a unifying mechanism of disease in the PRKAG2 cardiac syndrome. Biochem. Soc. Trans. 31 (2003) 228-231
14. Laforet P., Richard P., Said M.A., Romero N.B., Lacene E., Leroy J.P., Baussan C., Hogrel J.Y., Lavergne T., Wahbi K., Hainque B., and Duboc D. A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis. Neuromuscle Disord. 16 (2006) 178-182
15. Carpenter S., and Karpati G. Pathology of Skeletal Muscle. 2nd ed. (2001), Oxford University Press
16. Das B.B., Narkewicz M.R., Sokol R.J., Chen Y.T., Bali D., Li S.C., Matthews M.R., Mierau G.W., and Ivy D.D. Amylopectinosis disease isolated to the heart with normal glycogen branching enzyme activity and gene sequence. Pediatr. Transplant. 9 (2005) 261-265
17. Greene G.M., Weldon D.C., Ferrans V.J., Cheatham J.P., McComb R.D., Brown B.I., Gumbiner C.H., Vanderhoof J.A., Itkin P.G., and McManus B.M. Juvenile polysaccharidosis with cardioskeletal myopathy. Arch. Pathol. Lab. Med. 111 (1987) 977-982
18. Nakajima H., Raben N., Hamaguchi T., and Yamasaki T. Phosphofructokinase deficiency; past, present and future. Curr. Mol. Med. 2 (2002) 197-212
19. Browner M.F., Nakano K., Bang A.G., and Fletterick R.J. Human muscle glycogen synthase cDNA sequence: a negatively charged protein with an asymmetric charge distribution. Proc. Natl. Acad. Sci. USA 86 (1989) 1443-1447
20. Ferrer J.C., Favre C., Gomis R.R., Fernández-Novell J.M., García-Rocha M., de la Iglesia N., Cid E., and Guinovart J.J. Control of glycogen desposition. FEBS Lett. 546 (2003) 127-132