54th ENMC International Workshop: PROMM (proximal myotonic myopathies) and other proximal myotonic syndromes. 10-12th October 1997, Naarden, The Netherlands. (Q53565802)

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scientific article published in October 1998

Language	Label	Description	Also known as
English	54th ENMC International Workshop: PROMM (proximal myotonic myopathies) and other proximal myotonic syndromes. 10-12th October 1997, Naarden, The Netherlands.	scientific article published in October 1998

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

15 May 2018

http://europepmc.org/abstract/MED/9829282

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

1 reference

Europe PubMed Central

PubMed publication ID

15 May 2018

http://europepmc.org/abstract/MED/9829282

0 references

author name string

R T Moxley

1

1 reference

Europe PubMed Central

PubMed publication ID

15 May 2018

http://europepmc.org/abstract/MED/9829282

publication date

1 October 1998

1 reference

Europe PubMed Central

PubMed publication ID

15 May 2018

http://europepmc.org/abstract/MED/9829282

Neuromuscular Disorders

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Europe PubMed Central

PubMed publication ID

15 May 2018

http://europepmc.org/abstract/MED/9829282

8

1 reference

Europe PubMed Central

PubMed publication ID

15 May 2018

http://europepmc.org/abstract/MED/9829282

7

1 reference

Europe PubMed Central

PubMed publication ID

15 May 2018

http://europepmc.org/abstract/MED/9829282

508-518

1 reference

Europe PubMed Central

PubMed publication ID

15 May 2018

http://europepmc.org/abstract/MED/9829282

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

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

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7 January 2021

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

1 reference

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

1 reference

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7 January 2021

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Myotonic dystrophy with no trinucleotide repeat expansion

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

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Proximal myotonic myopathy syndrome in the absence of trinucleotide repeat expansions

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

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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

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Thornton-Griggs-Moxley disease: myotonic dystrophy type 2

1 reference

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Heat-sensitive myotonia in proximal myotonic myopathy

1 reference

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7 January 2021

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

1 reference

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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Genetics and physiology of the myotonic muscle disorders

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7 January 2021

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Involvement of cation transporting systems in myotonic diseases

1 reference

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7 January 2021

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Expression of apamin receptor in muscles of patients with myotonic muscular dystrophy

1 reference

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7 January 2021

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Possible role of apamin-sensitive K+ channels in myotonic dystrophy

1 reference

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7 January 2021

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Colchicine alters apamin receptors, electrical activity, and skeletal muscle relaxation

1 reference

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7 January 2021

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Characterization and regulation of apamin-binding K+ channels in skeletal muscle.

1 reference

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7 January 2021

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Channelopathies: the nondystrophic myotonias and periodic paralyses

1 reference

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7 January 2021

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Molecular pathology of the skeletal muscle sodium channel

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7 January 2021

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From mutation to myotonia in sodium channel disorders

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7 January 2021

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The skeletal muscle chloride channel in dominant and recessive human myotonia

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7 January 2021

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Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).

1 reference

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7 January 2021

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Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel

1 reference

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Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita

1 reference

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Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect

1 reference

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7 January 2021

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Subunit stoichiometry of human muscle chloride channels

1 reference

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7 January 2021

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A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel

1 reference

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7 January 2021

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Myotonia levior is a chloride channel disorder.

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Central nervous system magnetic resonance imaging findings in myotonic dystrophy

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Magnetic resonance imaging and clinical correlates of intellectual impairment in myotonic dystrophy

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Direct detection of novel expanded trinucleotide repeats in the human genome

1 reference

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7 January 2021

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inferred from DOI database lookup

Identifiers

10.1016/S0960-8966(98)00068-6

1 reference

Europe PubMed Central

PubMed publication ID

15 May 2018

http://europepmc.org/abstract/MED/9829282

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

15 May 2018

http://europepmc.org/abstract/MED/9829282

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