(Q24680748)

2

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H Johnston

3

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V Tobias

4

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R A Ouvrier

5

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I Wilkinson

6

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K N North

Journal of Medical Genetics

7

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language of work or name

English

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publication date

October 2001

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published in

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volume

38

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page(s)

649-57

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issue

10

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cites work

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

1 reference

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Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha2-chain

7 April 2017

1 reference

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Abnormalities of dystrophin, the sarcoglycans, and laminin alpha2 in the muscular dystrophies.

7 April 2017

1 reference

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PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy

28 September 2017

1 reference

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Immunohistochemical evaluation of merosin deficiency in congenital muscular dystrophies.

28 September 2017

1 reference

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Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734735

Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein.

28 September 2017

1 reference

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Expression of laminin isoforms in mouse myogenic cells in vitro and in vivo.

28 September 2017

1 reference

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Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy

28 September 2017

1 reference

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Severe classical congenital muscular dystrophy and merosin expression.

30 May 2018

1 reference

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Congenital muscular dystrophy with partial merosin deficiency and late onset epilepsy.

30 May 2018

1 reference

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Congenital muscular dystrophy with complete laminin-alpha2-deficiency, cortical dysplasia, and cerebral white-matter changes in children.

30 May 2018

1 reference

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Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin alpha 2 chain.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734735

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734735

Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia. Report of three Italian cases in two families.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734735

Abnormal localization of laminin subunits in muscular dystrophies

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734735

Minor neurological and perceptuo-motor deficits in children with congenital muscular dystrophy: correlation with brain MRI changes.

30 May 2018

1 reference

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68th ENMC international workshop (5th international workshop): On congenital muscular dystrophy, 9-11 April 1999, Naarden, The Netherlands.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734735

Cognitive abilities in children with congenital muscular dystrophy: correlation with brain MRI and merosin status.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734735

Merosin-deficient congenital muscular dystrophy associated with abnormal cerebral cortical gyration: an autopsy study.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734735

Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734735

Clinical correlations in 16 patients with total or partial laminin alpha2 deficiency characterized using antibodies against 2 fragments of the protein.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734735

Congenital muscular dystrophy, white-matter abnormalities, and neuronal migration disorders: the expanding concept.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734735

Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734735

Laminin alpha2 chain-deficient congenital muscular dystrophy: variable epitope expression in severe and mild cases.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734735

Laminin-alpha2 (merosin), beta-dystroglycan, alpha-sarcoglycan (adhalin), and dystrophin expression in congenital muscular dystrophies: an immunohistochemical study.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734735

Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI: a report of two siblings.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734735

Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734735

Congenital muscular dystrophy with partial deficiency of merosin.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734735

Deficiency of syntrophin, dystroglycan, and merosin in a female infant with a congenital muscular dystrophy phenotype lacking cysteine-rich and C-terminal domains of dystrophin.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734735

Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734735

Sequential study of central and peripheral nervous system involvement in an infant with merosin-deficient congenital muscular dystrophy.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734735

Brain alterations in the classical form of congenital muscular dystrophy. Clinical and neuroimaging follow-up of 12 cases and correlation with the expression of merosin in muscle.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734735

Congenital Muscular Dystrophy Associated With Merosin Deficiency

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734735

Merosin-negative non-Fukuyama-type congenital muscular dystrophy: a case report.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734735

Left ventricular structure and function by echocardiography in congenital muscular dystrophy.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734735

Merosin-negative congenital muscular dystrophy associated with extensive brain abnormalities

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734735

Clinical and histopathological study of merosin-deficient and merosin-positive congenital muscular dystrophy

28 November 2018

1 reference

12 December 2020

Proceedings of the 27th ENMC sponsored workshop on congenital muscular dystrophy. 22-24 April 1994, The Netherlands

1 reference

12 December 2020

50th ENMC International Workshop: congenital muscular dystrophy. 28 February 1997 to 2 March 1997, Naarden, The Netherlands

1 reference

12 December 2020

An early onset muscular dystrophy with diaphragmatic involvement, early respiratory failure and secondary alpha2 laminin deficiency unlinked to the LAMA2 locus on 6q22

1 reference

12 December 2020

Partial laminin alpha2 chain deficiency in a patient with myopathy resembling inclusion body myositis

1 reference

12 December 2020

Congenital muscular dystrophy with merosin deficiency

1 reference

12 December 2020

Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping

1 reference

12 December 2020

Somatosensory and visual evoked potentials in congenital muscular dystrophy: correlation with MRI changes and muscle merosin status

1 reference

12 December 2020

Familial concordance of brain magnetic resonance imaging changes in congenital muscular dystrophy

1 reference

12 December 2020

Deficiency of laminin alpha 2-chain mRNA in muscle in a patient with merosin-negative congenital muscular dystrophy

1 reference

12 December 2020

Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal muscle

1 reference

12 December 2020

Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy

1 reference

12 December 2020

[Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis]

1 reference

12 December 2020

41st ENMC International Workshop on Congenital Muscular Dystrophy 8-10 March 1996, Naarden, The Netherlands

1 reference

12 December 2020

Congenital muscular dystrophy with cerebral white matter hypodensity. Correlation of clinical features and merosin deficiency

1 reference

12 December 2020

Mild clinical phenotype in a 12-year-old boy with partial merosin deficiency and central and peripheral nervous system abnormalities

1 reference

12 December 2020

Congenital muscular dystrophy with primary laminin alpha2 (merosin) deficiency presenting as inflammatory myopathy

1 reference

12 December 2020

Muscle-eye-brain disease: a neuropathological study

1 reference

12 December 2020

A benign allelic form of laminin alpha 2 chain deficient muscular dystrophy

1 reference

12 December 2020

An atypical case of partial merosin deficiency congenital muscular dystrophy

1 reference

12 December 2020

Evidence of left ventricular dysfunction in children with merosin-deficient congenital muscular dystrophy

1 reference

12 December 2020

Occidental-type cerebromuscular dystrophy versus congenital muscular dystrophy with merosin deficiency

1 reference

12 December 2020

Congenital muscular dystrophy with merosin deficiency: MRI findings in five patients

1 reference

12 December 2020

The protein defect in congenital muscular dystrophy

1 reference

12 December 2020

Deficiency of merosin (laminin M or alpha 2) in congenital muscular dystrophy associated with cerebral white matter alterations

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.38.10.649

1 reference

4357656

4357656

1 reference

1 reference

1 reference