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Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.
Ann Neurol. 2000 Apr; 47(4):536-40.AN

Abstract

We describe the first non-Ashkenazi patient with adult polyglucosan body disease and decreased glycogen-branching enzyme (GBE) activity in leukocytes. Gene analysis revealed compound heterozygosity for two novel missense mutations Arg515His and Arg524Gln in the GBE gene. Both missense mutations are predicted to impair GBE activity. This is the first identification of GBE mutations underlying adult polyglucosan body disease in a non-Ashkenazi family, and confirms that adult glycogen storage disease type IV can manifest clinically as adult polyglucosan body disease.

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Authors+Show Affiliations

Ziemssen F
Department of Neurology, Ruhr University Bochum, Germany.
Sindern E
No affiliation info available
Schröder JM
No affiliation info available
Shin YS
No affiliation info available
Zange J
No affiliation info available
Kilimann MW
No affiliation info available
Malin JP
No affiliation info available
Vorgerd M
No affiliation info available

MeSH

1,4-alpha-Glucan Branching EnzymeAmino Acid SequenceBase SequenceBiopsyDNA Mutational AnalysisFemaleGlycogen Storage Disease Type IVHumansMiddle AgedMutation, MissenseSural Nerve

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

10762170

Citation

Ziemssen, F, et al. "Novel Missense Mutations in the Glycogen-branching Enzyme Gene in Adult Polyglucosan Body Disease." Annals of Neurology, vol. 47, no. 4, 2000, pp. 536-40.
Ziemssen F, Sindern E, Schröder JM, et al. Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease. Ann Neurol. 2000;47(4):536-40.
Ziemssen, F., Sindern, E., Schröder, J. M., Shin, Y. S., Zange, J., Kilimann, M. W., Malin, J. P., & Vorgerd, M. (2000). Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease. Annals of Neurology, 47(4), 536-40.
Ziemssen F, et al. Novel Missense Mutations in the Glycogen-branching Enzyme Gene in Adult Polyglucosan Body Disease. Ann Neurol. 2000;47(4):536-40. PubMed PMID: 10762170.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease. AU - Ziemssen,F, AU - Sindern,E, AU - Schröder,J M, AU - Shin,Y S, AU - Zange,J, AU - Kilimann,M W, AU - Malin,J P, AU - Vorgerd,M, PY - 2000/4/13/pubmed PY - 2000/4/29/medline PY - 2000/4/13/entrez SP - 536 EP - 40 JF - Annals of neurology JO - Ann Neurol VL - 47 IS - 4 N2 - We describe the first non-Ashkenazi patient with adult polyglucosan body disease and decreased glycogen-branching enzyme (GBE) activity in leukocytes. Gene analysis revealed compound heterozygosity for two novel missense mutations Arg515His and Arg524Gln in the GBE gene. Both missense mutations are predicted to impair GBE activity. This is the first identification of GBE mutations underlying adult polyglucosan body disease in a non-Ashkenazi family, and confirms that adult glycogen storage disease type IV can manifest clinically as adult polyglucosan body disease. SN - 0364-5134 UR - https://www.unboundmedicine.com/medline/citation/10762170/Novel_missense_mutations_in_the_glycogen_branching_enzyme_gene_in_adult_polyglucosan_body_disease_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0364-5134&date=2000&volume=47&issue=4&spage=536 DB - PRIME DP - Unbound Medicine ER -