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NA05212 DNA from LCL

Description:

DYSTROPHIA MYOTONICA 1; DM1

Affected:

Yes

Sex:

Female

Age:

48 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 with Trinucleotide Expansions
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
Family Member 2
Relation to Proband mother
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; marked weakness of distal and proximal muscles; need for wheelchair ambulation; bilateral cataracts; frontal balding; minimal facial expression with open-mouth; hypoactive deep tendon reflexes; weakness of flexion-extension of the head and neck; myotonic response noted at the thenar eminence and at the tongue; myopathic facies; weakness of facial musculature and lingual movements; myotonia of grip; temporal wasting; distal wasting; donor subject has one normal CTG repeat allele and one allele with two strong bands of approximately 900 and 1000 CTG repeats in the DMPK gene; affected daughter is GM05211; see GM05213 fibroblast

Characterizations

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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 Clinically affected; marked weakness of distal and proximal muscles; need for wheelchair ambulation; bilateral cataracts; frontal balding; minimal facial expression with open-mouth; hypoactive deep tendon reflexes; weakness of flexion-extension of the head and neck; myotonic response noted at the thenar eminence and at the tongue; myopathic facies; weakness of facial musculature and lingual movements; myotonia of grip; temporal wasting; distal wasting; donor subject has one normal CTG repeat allele and one allele with two strong bands of approximately 900 and 1000 CTG repeats in the DMPK gene; affected daughter is GM05211; see GM05213 fibroblast

Publications

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Asano K, Yoshimi K, Takeshita K, Mitsuhashi S, Kochi Y, Hirano R, Tingyu Z, Ishida S, Mashimo T, CRISPR Diagnostics for Quantification and Rapid Diagnosis of Myotonic Dystrophy Type 1 Repeat Expansion Disorders ACS synthetic biology13:3926-3935 2024
PubMed ID: 39565688
 
Kalman L, Tarleton J, Hitch M, Hegde M, Hjelm N, Berry-Kravis E, Zhou L, Hilbert JE, Luebbe EA, Moxley RT, Toji L, Development of a Genomic DNA Reference Material Panel for Myotonic Dystrophy Type 1 (DM1) Genetic Testing The Journal of molecular diagnostics : JMD13:3926-3935 2012
PubMed ID: 23680132

External Links

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NCBI GTR 160900 MYOTONIC DYSTROPHY 1; DM1
OMIM 160900 MYOTONIC DYSTROPHY 1; DM1
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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