(Q33677815)

28 July 2017

title

Homozygous myotonic dystrophy: clinical and molecular studies of three unrelated cases (English)

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28 July 2017

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Martorell L

1

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28 July 2017

Illa I

2

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28 July 2017

Rosell J

3

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28 July 2017

Benitez J

4

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28 July 2017

Sedano MJ

5

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28 July 2017

Baiget M

6

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28 July 2017

language of work or name

English

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publication date

1 September 1996

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

33

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28 July 2017

issue

9

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28 July 2017

page(s)

783-785

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Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.

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=1050736

A new polymorphic probe which defines the region of chromosome 19 containing the myotonic dystrophy locus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050736

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=1050736

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=1050736

Dynamic mutations: a new class of mutations causing human disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050736

Expansion of the myotonic dystrophy gene in Italian and Spanish patients.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050736

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=1050736

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=1050736

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=1050736

Myotonic dystrophy is closely linked to the gene for muscle-type creatine kinase (CKMM)

28 July 2018

1 reference

12 December 2020

A reordering of human chromosome 19 long-arm DNA markers and identification of markers flanking the myotonic dystrophy locus

1 reference

12 December 2020

Molecular diagnosis of homozygous myotonic dystrophy in two asymptomatic sisters

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12 December 2020

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12 December 2020

Origin of the expansion mutation in myotonic dystrophy

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12 December 2020

Identifiers

DOI

10.1136/JMG.33.9.783

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28 July 2017

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28 July 2017

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