Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy (Q42686876)

4 November 2017

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

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4 November 2017

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7

Muntoni F

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4 November 2017

Naom I

1

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4 November 2017

D'Alessandro M

2

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4 November 2017

Sewry CA

3

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4 November 2017

Philpot J

4

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4 November 2017

Manzur AY

5

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4 November 2017

Dubowitz V

6

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4 November 2017

1 October 1998

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4 November 2017

Neuromuscular Disorders

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4 November 2017

8

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4 November 2017

7

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4 November 2017

495-501

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22nd ENMC sponsored workshop on congenital muscular dystrophy held in Baarn, The Netherlands, 14-16 May 1993

4 November 2017

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https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900065-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900065-0

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900065-0

7 January 2021

Expression of laminin subunits in congenital muscular dystrophy

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https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900065-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900065-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900065-0

7 January 2021

Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy

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https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900065-0

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900065-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900065-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900065-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900065-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900065-0

7 January 2021

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://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900065-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900065-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900065-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900065-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900065-0

7 January 2021

Structure of the human laminin alpha2-chain gene (LAMA2), which is affected in congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900065-0

7 January 2021

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900065-0

7 January 2021

10.1016/S0960-8966(98)00065-0

Identifiers

DOI

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4 November 2017

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