(Q57085840)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382907%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

title

Proximal myotonic myopathy (PROMM) presenting as myotonia during pregnancy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382907%20AND%20SRC:MED&resulttype=core&format=json

proximal myotonic myopathy

9 December 2019

main subject

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382907%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

Giovanni Meola

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382907%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

author name string

H Kingston

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382907%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

D G O'Donovan

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382907%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

A H Schapira

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382907%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

publication date

1 May 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382907%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

published in

Neuromuscular Disorders

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382907%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

volume

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382907%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

issue

3

1 reference

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9 December 2019

page(s)

144-149

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382907%20AND%20SRC:MED&resulttype=core&format=json

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

9 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900118-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900118-7

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/10.1016%2FS0960-8966%2898%2900118-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900118-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900118-7

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/10.1016%2FS0960-8966%2898%2900118-7

7 January 2021

Genetic mapping of a second myotonic dystrophy locus

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900118-7

7 January 2021

Proximal myotonic myopathy with MRI white matter abnormalities of the brain.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900118-7

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/10.1016%2FS0960-8966%2898%2900118-7

7 January 2021

Myotonic dystrophy with no trinucleotide repeat expansion

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900118-7

7 January 2021

10.1016/S0960-8966(98)00118-7

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382907%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

1 reference