(Q33674182)

28 July 2017

title

A case of paternally inherited congenital myotonic dystrophy (English)

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28 July 2017

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Nakagawa M

1

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28 July 2017

Yamada H

2

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28 July 2017

Higuchi I

3

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28 July 2017

Kaminishi Y

4

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28 July 2017

Miki T

5

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28 July 2017

Johnson K

6

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28 July 2017

Osame M

7

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28 July 2017

language of work or name

English

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publication date

1 May 1994

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

31

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28 July 2017

issue

5

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28 July 2017

page(s)

397-400

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Negative expansion of the myotonic dystrophy unstable sequence.

28 July 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049873

No imprinting involved in the expression of DM-kinase mRNAs in mouse and human tissues

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049873

Early-onset dystrophia myotonica. Evidence supporting a maternal environmental factor

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049873

Anticipation in myotonic dystrophy: fact or fiction?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049873

Genomic imprinting: review and relevance to human diseases.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049873

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049873

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049873

Comparison of the myotonic dystrophy associated CTG repeat in European and Japanese populations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049873

Cloning of the essential myotonic dystrophy region and mapping of the putative defect

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049873

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049873

Congenital myotonic dystrophy in Britain. II. Genetic basis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049873

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049873

Explanation for exclusive maternal origin for congenital form of myotonic dystrophy

28 July 2018

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12 December 2020

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12 December 2020

Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype

1 reference

12 December 2020

Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy

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12 December 2020

Identifiers

DOI

10.1136/JMG.31.5.397

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28 July 2017

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28 July 2017

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