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NA03991 DNA from Fibroblast

Description:

DYSTROPHIA MYOTONICA 1; DM1
DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK

Affected:

Yes

Sex:

Female

Age:

76 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Muscular Dystrophies
Class Disorders of Connective Tissue, Muscle, and Bone
Class Disorders with Trinucleotide Expansions
Quantity 10 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Family Member 4
Relation to Proband mother
Confirmation Molecular characterization - other
Species Homo sapiens
Common Name Human
Remarks Distal weakness; cataracts; clinical and electrical (EMG) myotonia; frontal baldness; see GM03990B Lymphoid; characterization of lymphoblast DNA showed 50 to 80 CTG repeats by PCR, no visible expansion by Southern analysis

Characterizations

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PDL at Freeze 4.28
Passage Frozen 5
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 
Gene DMPK
Chromosomal Location 19q13.2-q13.3
Allelic Variant 1 605377.0001; MYOTONIC DYSTROPHY
Identified Mutation (CTG)n EXPANSION; The consistent genetic defect associated with myotonic dystrophy is an amplified trinucleotide CTG repeat in the 3-prime untranslated region of the serine-threonine kinase gene DMK on 19q. Unaffected individuals have between 5 and 27 copies. DM patients who are minimally affected have at least 50 repeats, while more severely affected patients have expansion of the repeat-containing segment up to several kilobases.

Phenotypic Data

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Remarks Distal weakness; cataracts; clinical and electrical (EMG) myotonia; frontal baldness; see GM03990B Lymphoid; characterization of lymphoblast DNA showed 50 to 80 CTG repeats by PCR, no visible expansion by Southern analysis

Publications

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Zarouchlioti C, Sanchez-Pintado B, Hafford Tear NJ, Klein P, Liskova P, Dulla K, Semo M, Vugler AA, Muthusamy K, Dudakova L, Levis HJ, Skalicka P, Hysi P, Cheetham ME, Tuft SJ, Adamson P, Hardcastle AJ, Davidson AE, Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity American journal of human genetics102:528-539 2018
PubMed ID: 29526280
 
Gorbunova V, Seluanov A, Mittelman D, Wilson JH, Genome-wide demethylation destabilizes CTG.CAG trinucleotide repeats in mammalian cells. Hum Mol Genet13(23):2979-89 2004
PubMed ID: 15459182
 
Michalowski S, Miller JW, Urbinati CR, Paliouras M, Swanson MS, Griffith J, Visualization of double-stranded RNAs from the myotonic dystrophy protein kinase gene and interactions with CUG-binding protein. Nucleic Acids Res27(17):3534-42 1999
PubMed ID: 10446244

External Links

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dbSNP dbSNP ID: 10710
Gene Cards DMPK
Gene Ontology GO:0004674 protein serine/threonine kinase activity
GO:0005524 ATP binding
GO:0006468 protein amino acid phosphorylation
GO:0006936 muscle contraction
GO:0016740 transferase activity
NCBI Gene Gene ID:1760
NCBI GTR 160900 MYOTONIC DYSTROPHY 1; DM1
605377 DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK
OMIM 160900 MYOTONIC DYSTROPHY 1; DM1
605377 DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK
Omim Description DM PROTEIN KINASE, INCLUDED
  DYSTROPHIA MYOTONICA; DM
  DYSTROPHIA MYOTONICA; DMPK
  MYOTONIC DYSTROPHY
  MYOTONIC DYSTROPHY PROTEIN KINASE, INCLUDED; MDPK, INCLUDED
  MYOTONIN-PROTEIN KINASE, INCLUDED
  STEINERT DISEASEDM-KINASE, INCLUDED; DMK, INCLUDED
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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