(Q35304917)

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Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Asso

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PubMed publication ID

7 August 2017

Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Asso (English)

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7 August 2017

congenital disorder

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congenital muscular dystrophy

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Leslie Morrison

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Leslie Morrison

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Kathryn North

9

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Susan T. Iannaccone

3

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Susan T Iannaccone

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7 August 2017

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Peter B Kang

1

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7 August 2017

Robert J Graham

4

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7 August 2017

Carsten G Bönnemann

5

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7 August 2017

Anne Rutkowski

6

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7 August 2017

Joseph Hornyak

7

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7 August 2017

Ching H Wang

8

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7 August 2017

Maryam Oskoui

10

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7 August 2017

Thomas S D Getchius

11

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7 August 2017

Julie A Cox

12

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7 August 2017

Erin E Hagen

13

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7 August 2017

Gary Gronseth

14

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7 August 2017

Robert C Griggs

15

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7 August 2017

Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine

16

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7 August 2017

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1 March 2015

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7 August 2017

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7 August 2017

84

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7 August 2017

13

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7 August 2017

1369-1378

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Europe PubMed Central

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7 August 2017

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388744

27 July 2018

Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388744

27 July 2018

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388744

27 July 2018

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388744

27 July 2018

The collagen VI-related myopathies: muscle meets its matrix

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388744

27 July 2018

The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388744

27 July 2018

Pattern recognition on brain magnetic resonance imaging in alpha dystroglycanopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388744

27 July 2018

Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388744

27 July 2018

Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388744

27 July 2018

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388744

27 July 2018

An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388744

27 July 2018

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388744

27 July 2018

Congenital muscular dystrophy with laminin alpha 2 chain deficiency: identification of a new intermediate phenotype and correlation of clinical findings to muscle immunohistochemistry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388744

27 July 2018

Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388744

27 July 2018

Diagnostic approach to the congenital muscular dystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388744

26 September 2018

Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388744

26 September 2018

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388744

26 September 2018

A dystroglycan mutation associated with limb-girdle muscular dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388744

26 September 2018

Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388744

26 September 2018

Merosin-deficient congenital muscular dystrophy in Korea

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388744

26 September 2018

POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388744

26 September 2018

A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388744

26 September 2018

Muscle ultrasonography and electromyography correlation for evaluation of floppy infants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388744

26 September 2018

Neonatal hypotonia of muscular origin: analysis of 50 cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388744

26 September 2018

Muscle membrane-skeleton protein changes and histopathological characterization of muscle-eye-brain disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388744

26 September 2018

Congenital muscular dystrophy: use of brain MR imaging findings to predict merosin deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388744

26 September 2018

Cerebellar MR in Fukuyama congenital muscular dystrophy: polymicrogyria with cystic lesions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388744

26 September 2018

Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388744

15 November 2018

Deficiency of laminin α2‐Chain mRNA in muscle in a patient with merosin‐negative congenital muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/25825463

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy

1 reference

https://pubmed.ncbi.nlm.nih.gov/25825463

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dystrophin-glycoproteins associated in congenital muscular dystrophy: immunohistochemical analysis of 59 Brazilian cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/25825463

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sensitivity and specificity of qualitative muscle ultrasound in assessment of suspected neuromuscular disease in childhood

1 reference

https://pubmed.ncbi.nlm.nih.gov/25825463

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/25825463

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families

1 reference

https://pubmed.ncbi.nlm.nih.gov/25825463

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine

1 reference

https://pubmed.ncbi.nlm.nih.gov/25825463

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/25825463

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Ullrich syndrome: a hypotonic disorder of early infancy, difficult to define as an entity]

1 reference

https://pubmed.ncbi.nlm.nih.gov/25825463

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations

1 reference

https://pubmed.ncbi.nlm.nih.gov/25825463

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1212/WNL.0000000000001416

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

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