Congenital myopathies: Natural history of a large pediatric cohort (Q35106557)

25428687

6 August 2017

title

Congenital myopathies: Natural history of a large pediatric cohort (English)

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6 August 2017

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5

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9 June 2020

12

Francesco Muntoni

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9 June 2020

11

Heinz Jungbluth

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9 June 2020

author name string

Irene Colombo

1

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9 June 2020

Mariacristina Scoto

2

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9 June 2020

Adnan Y Manzur

3

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9 June 2020

Stephanie A Robb

4

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9 June 2020

Vasantha Gowda

6

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9 June 2020

Thomas Cullup

7

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Michael Yau

8

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Rahul Phadke

9

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9 June 2020

Caroline Sewry

10

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9 June 2020

language of work or name

English

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publication date

26 November 2014

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25428687

6 August 2017

number of pages

8

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inferred from page(s)

published in

Neurology

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volume

84

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issue

1

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9 June 2020

page(s)

28-35

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Approach to the diagnosis of congenital myopathies

9 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336094

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336094

Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336094

Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336094

Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336094

A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336094

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336094

National, regional, and worldwide estimates of preterm birth rates in the year 2010 with time trends since 1990 for selected countries: a systematic analysis and implications

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336094

Consensus statement on standard of care for congenital myopathies

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336094

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336094

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336094

117th ENMC workshop: ventilatory support in congenital neuromuscular disorders -- congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336094

Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336094

Nemaline myopathy: a clinical study of 143 cases

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336094

Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336094

A follow-up study of congenital non-progressive myopathies.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336094

Cerebral dysgeneses and their influence on fetal muscle development.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336094

The 2014 version of the gene table of monogenic neuromuscular disorders (nuclear genome).

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336094

Pregnancy course and outcome in women with hereditary neuromuscular disorders: comparison of obstetric risks in 178 patients.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336094

First genomic rearrangement of the RYR1 gene associated with an atypical presentation of lethal neonatal hypotonia

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336094

Distal myopathy caused by homozygous missense mutations in the nebulin gene

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336094

Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336094

Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336094

Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336094

Genotype-phenotype correlations in X-linked myotubular myopathy

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336094

Medical complications in long-term survivors with X-linked myotubular myopathy.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336094

Orthopaedic aspects of central core disease.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336094

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336094

King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene

16 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336094

Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy

16 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336094

Genotype?phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle ?-actin

16 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336094

Fifty year follow-up of a patient with central core disease shows slow but definite progression

16 November 2018

1 reference

12 December 2020

Congenital myopathies

1 reference

12 December 2020

Congenital myopathies

1 reference

12 December 2020

Prevalence of congenital myopathies in a representative pediatric united states population

1 reference

12 December 2020

Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom

1 reference

12 December 2020

Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1212/WNL.0000000000001110

Identifiers

DOI

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25428687

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