Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population (Q33685609)

28 July 2017

title

Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population (English)

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28 July 2017

6

Volker Straub

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28 July 2017

3

Patrick F Chinnery

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28 July 2017

Fiona L M Norwood

1

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28 July 2017

Chris Harling

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2

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28 July 2017

Michelle Eagle

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4

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28 July 2017

Kate Bushby

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5

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28 July 2017

language of work or name

English

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publication date

18 September 2009

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28 July 2017

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28 July 2017

volume

132

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28 July 2017

issue

Pt 11

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28 July 2017

page(s)

3175-3186

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Muscular dystrophies due to glycosylation defects

28 July 2017

cites work

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14 July 2018

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14 July 2018

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14 July 2018

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14 July 2018

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14 July 2018

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14 July 2018

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14 July 2018

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14 July 2018

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Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect

14 July 2018

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Prevalence of sporadic inclusion body myositis in Western Australia

14 July 2018

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An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).

14 July 2018

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Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling

14 July 2018

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14 July 2018

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14 July 2018

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14 July 2018

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Comparison of the myotonic dystrophy associated CTG repeat in European and Japanese populations

14 July 2018

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cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark.

14 July 2018

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The frequency of limb girdle muscular dystrophy 2A in northeastern Italy

21 January 2018

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LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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30 October 2018

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Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan

21 January 2018

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Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden

21 January 2018

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12 December 2020

Treatment of McArdle disease

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12 December 2020

Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy

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12 December 2020

Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation

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12 December 2020

Prevalence and incidence of Becker muscular dystrophy

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12 December 2020

Dysferlinopathy in the Jews of the Caucasus: a frequent mutation in the dysferlin gene

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12 December 2020

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

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12 December 2020

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12 December 2020

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12 December 2020

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Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample.

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12 December 2020

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12 December 2020

The prevalence of inherited neuromuscular disease in Northern Ireland

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12 December 2020

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12 December 2020

Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families

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12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWP236

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28 July 2017

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28 July 2017

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