(Q73425917)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10665666%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

title

Proximal myotonic myopathy: clinical and molecular investigation of a Norwegian family with PROMM (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10665666%20AND%20SRC:MED&resulttype=core&format=json

proximal myotonic myopathy

3 November 2019

main subject

1 reference

C Sun

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10665666%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

O A Henriksen

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10665666%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

L Tranebjaerg

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10665666%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

publication date

1 December 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10665666%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10665666%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

volume

56

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10665666%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10665666%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

page(s)

457-461

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10665666%20AND%20SRC:MED&resulttype=core&format=json

Myotonic dystrophy with no trinucleotide repeat expansion

3 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560609.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560609.X

7 January 2021

Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560609.X

7 January 2021

Proximal weakness as the primary manifestation of myotonic dystrophy in older adults

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560609.X

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.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560609.X

7 January 2021

[A patient with muscle pain after a journey to the tropics. Myocardial involvement in proximal myotonic myopathy]

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560609.X

7 January 2021

Cardiac involvement in proximal myotonic myopathy

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560609.X

7 January 2021

PROMM: the expanding phenotype. A family with proximal myopathy, myotonia and deafness

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560609.X

7 January 2021

Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560609.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560609.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560609.X

7 January 2021

54th ENMC International Workshop: PROMM (proximal myotonic myopathies) and other proximal myotonic syndromes. 10-12th October 1997, Naarden, The Netherlands.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560609.X

7 January 2021

Proximal myotonic myopathy (PROMM) and other proximal myotonic syndromes

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560609.X

7 January 2021

Genetic mapping of a second myotonic dystrophy locus

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560609.X

7 January 2021

Linkage of proximal myotonic myopathy to chromosome 3q.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560609.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560609.X

7 January 2021

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560609.X

7 January 2021

Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560609.X

7 January 2021

10.1034/J.1399-0004.1999.560609.X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10665666%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference