Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2) (Q74578232)

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11 November 2019

title

Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2) (English)

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11 November 2019

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J W Day

1

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11 November 2019

R Roelofs

2

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11 November 2019

B Leroy

3

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11 November 2019

I Pech

4

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11 November 2019

K Benzow

5

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11 November 2019

L P Ranum

6

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11 November 2019

publication date

1 January 1999

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11 November 2019

published in

Neuromuscular Disorders

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11 November 2019

volume

9

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11 November 2019

issue

1

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11 November 2019

page(s)

19-27

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

11 November 2019

cites work

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

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

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

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7 January 2021

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

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7 January 2021

Myotonic dystrophy reviewed: back to the future?

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7 January 2021

Myotonic dystrophy, knockouts, warts and all.

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7 January 2021

Myotonic dystrophy: will the real gene please step forward!

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Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice.

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7 January 2021

Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy

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7 January 2021

Preferential nucleosome assembly at DNA triplet repeats from the myotonic dystrophy gene

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7 January 2021

Expanded CTG triplet blocks from the myotonic dystrophy gene create the strongest known natural nucleosome positioning elements

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7 January 2021

Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure

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7 January 2021

A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat

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7 January 2021

Genomic organization and transcriptional units at the myotonic dystrophy locus

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7 January 2021

Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues

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7 January 2021

Effect of Myotonic Dystrophy Trinucleotide Repeat Expansion on DMPK Transcription and Processing

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7 January 2021

Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele

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7 January 2021

Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation

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7 January 2021

Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy

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7 January 2021

Myotonic dystrophy with no trinucleotide repeat expansion

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7 January 2021

Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts

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7 January 2021

Proximal myotonic dystrophy--a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes?

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7 January 2021

A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies.

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7 January 2021

Myotonic dystrophy phenotype without expansion of (CTG)n repeat: An entity distinct from proximal myotonic myopathy (PROMM)?

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7 January 2021

Genetic mapping of a second myotonic dystrophy locus

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7 January 2021

Strategies for multilocus linkage analysis in humans

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7 January 2021

A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis

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7 January 2021

The skeletal muscle chloride channel in dominant and recessive human myotonia

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7 January 2021

Heat-sensitive myotonia in proximal myotonic myopathy

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7 January 2021

Reassessment of the specificity of lens opacities in myotonic dystrophy

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7 January 2021

Proximal myotonic myopathy: mini-review of a recently delineated clinical disorder

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7 January 2021

Thornton-Griggs-Moxley disease: myotonic dystrophy type 2

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7 January 2021

Direct detection of novel expanded trinucleotide repeats in the human genome

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7 January 2021

Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA.

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7 January 2021

10.1016/S0960-8966(98)00094-7

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10063831%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

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