The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review (Q24680748)

Europe PubMed Central

title

The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review (English)

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K J Jones

1

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G Morgan

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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issue

10

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page(s)

649-57

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cites work

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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.

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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

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

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12 December 2020

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

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

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

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Congenital muscular dystrophy with merosin deficiency

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

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

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

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

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

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Muscle-eye-brain disease: a neuropathological study

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

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An atypical case of partial merosin deficiency congenital muscular dystrophy

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

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

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

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The protein defect in congenital muscular dystrophy

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

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Identifiers

DOI

10.1136/JMG.38.10.649

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PubMed publication ID

11584042

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