Clinical and genetic heterogeneity in myotonic dystrophies (Q34096504)

31 July 2017

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title

Clinical and genetic heterogeneity in myotonic dystrophies (English)

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31 July 2017

Meola G

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31 July 2017

language of work or name

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1 December 2000

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31 July 2017

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31 July 2017

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31 July 2017

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31 July 2017

page(s)

1789-1799

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Brain proton magnetic resonance spectroscopy and brain atrophy in myotonic dystrophy

31 July 2017

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Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes

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

21 January 2018

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Proximal myotonic myopathy with MRI white matter abnormalities of the brain

21 January 2018

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Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP

21 January 2018

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Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker

21 January 2018

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

21 January 2018

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Clinical and neuroimaging study of central nervous system in congenital myotonic dystrophy

21 January 2018

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Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period

21 January 2018

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

21 January 2018

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A newly-described myotonic disorder (proximal myotonic myopathy--PROMM): personal experience and review of the literature

21 January 2018

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Reduced cerebral blood flow and impaired visual-spatial function in proximal myotonic myopathy

21 January 2018

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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.

21 January 2018

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Antimyotonic therapy with tocainide under ECG control in the myotonic dystrophy of Curschmann-Steinert.

21 January 2018

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RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance.

21 January 2018

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

21 January 2018

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

21 January 2018

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Cardiac disease in myotonic dystrophy

21 January 2018

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Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis

21 January 2018

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Genetic mapping of a second myotonic dystrophy locus

21 January 2018

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

21 January 2018

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Myotonic dystrophy and proximal myotonic myophathy

21 January 2018

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Linkage of proximal myotonic myopathy to chromosome 3q.

21 January 2018

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Abnormalities of the fast sodium current in myotonic dystrophy, recessive generalized myotonia, and adynamia episodica

21 January 2018

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Direct detection of novel expanded trinucleotide repeats in the human genome

21 January 2018

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Myotonic dystrophy. The role of large triplet repeat length in the development of mental retardation.

21 January 2018

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Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes

21 January 2018

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Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene

21 January 2018

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Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: implications for myotonic dystrophy

21 January 2018

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Cardiac involvement in a large kindred with myotonic dystrophy. Quantitative assessment and relation to size of CTG repeat expansion

21 January 2018

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Acetazolamide-responsive myotonia congenita

21 January 2018

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?

21 January 2018

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Instability of the (CTG)n Repeat in Congenital Myotonic Dystrophy

21 January 2018

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Proximal myotonic myopathy (PROMM) presenting as myotonia during pregnancy

21 January 2018

1 reference

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Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses

21 January 2018

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

21 January 2018

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AFM/MDA 1st International Myotonic Dystrophy Consortium Conference 30 June-1 July 1997, Paris, France

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Cardiac involvement in patients with myotonic dystrophy: characteristic features of magnetic resonance imaging

21 January 2018

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Effect of testosterone on muscle protein synthesis in myotonic dystrophy

21 January 2018

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Lack of relationship of hypogonadism to muscle wasting in myotonic dystrophy

21 January 2018

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CTG-repeat length in distal and proximal leg muscles of symptomatic and non-symptomatic patients with myotonic dystrophy: relation to muscle strength and degree of histopathological abnormalities

21 January 2018

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

21 January 2018

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New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1). The International Myotonic Dystrophy Consortium (IDMC)

21 January 2018

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Congenital myotonic dystrophy pathology and somatic mosaicism

21 January 2018

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Treatment of myotonia with antiarrhythmic drugs

21 January 2018

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

21 January 2018

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Relationships among electrophysiological findings and clinical status, heart function, and extent of DNA mutation in myotonic dystrophy

21 January 2018

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Myotonic dystrophies--how many are there?

21 January 2018

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A 10-year study of mortality in a cohort of patients with myotonic dystrophy

21 January 2018

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Genealogical reconstruction of myotonic dystrophy in the Saguenay-Lac-Saint-Jean area (Quebec, Canada)

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Thornton-Griggs-Moxley disease: myotonic dystrophy type 2

21 January 2018

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Heat-sensitive myotonia in proximal myotonic myopathy

21 January 2018

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The exercise test distinguishes proximal myotonic myopathy from myotonic dystrophy

21 January 2018

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Carbamazepine versus Diphenylhydantoin in the Treatment of Myotonia

21 January 2018

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Direct diagnosis of myotonic dystrophy with a disease-specific DNA marker

21 January 2018

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Proximal myotonic myopathy syndrome in the absence of trinucleotide repeat expansions

21 January 2018

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Getting a grip on the myotonic dystrophies

21 January 2018

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Myotonic dystrophy with no trinucleotide repeat expansion

21 January 2018

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Cardiac involvement in proximal myotonic myopathy

21 January 2018

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A family with PROMM not linked to the recently mapped PROMM locus DM2

21 January 2018

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Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur?

21 January 2018

1 reference

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10.1002/1097-4598(200012)23:12<1789::AID-MUS2>3.0.CO;2-4

21 January 2018

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31 July 2017

1 reference