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search submit
NA07754 DNA from LCL

Description:

GLYCOGEN STORAGE DISEASE VII

Affected:

Yes

Sex:

Male

Age:

75 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Carbohydrate Metabolism
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Ethnicity JEWISH
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Atypical; late onset myopathy; 10 year history of proximal limb weakness without cramps, myoglobinuria, or hyperuricemia; 1% of normal muscle PFK activity & 55% of normal RBC PFK activity; novel mutation in the M subunit of PFK

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227.
 
6-phosphofructokinase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.7.1.11; 55% activity.
 
6-phosphofructokinase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.7.1.11; 1% activity.
 

Phenotypic Data

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Remarks Atypical; late onset myopathy; 10 year history of proximal limb weakness without cramps, myoglobinuria, or hyperuricemia; 1% of normal muscle PFK activity & 55% of normal RBC PFK activity; novel mutation in the M subunit of PFK

External Links

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dbSNP dbSNP ID: 11041
Gene Ontology GO:0000287 magnesium ion binding
GO:0003872 6-phosphofructokinase activity
GO:0005524 ATP binding
GO:0005737 cytoplasm
GO:0005945 6-phosphofructokinase complex
GO:0005977 glycogen metabolism
GO:0006006 glucose metabolism
GO:0006096 glycolysis
GO:0006110 regulation of glycolysis
GO:0016301 kinase activity
GO:0016740 transferase activity
NCBI Gene Gene ID:5213
NCBI GTR 232800 GLYCOGEN STORAGE DISEASE VII; GSD7
OMIM 232800 GLYCOGEN STORAGE DISEASE VII; GSD7
Omim Description GLYCOGEN DISEASE OF MUSCLE
  GLYCOGEN STORAGE DISEASE VII
  MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY
  PFKM DEFICIENCY
  TARUI DISEASEPHOSPHOFRUCTOKINASE, MUSCLE TYPE, INCLUDED; PFKM, INCLUDED
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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How to Order
  • Ordering Instructions
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