Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha2-chain (Q28238601)

2

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M A Salih

3

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V Straub

4

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C O Ozo

5

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M H Al-Turaiki

6

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M Akbar

7

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T Kolo

8

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H Colognato

9

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X Zhang

10

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L M Sorokin

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P D Yurchenco

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K Tryggvason

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K P Campbell

Congenital muscular dystrophy and cerebral CT scan anomalies. Results of a collaborative study of the Société de Neurologie Infantile

14

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language of work or name

English

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publication date

May 1997

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published in

Human Molecular Genetics

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volume

6

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page(s)

747-52

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issue

5

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cites work

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Occidental type cerebromuscular dystrophy: a report of eleven cases

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A new nomenclature for the laminins

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Human laminin M chain (merosin): complete primary structure, chromosomal assignment, and expression of the M and A chain in human fetal tissues

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

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Dystrophia Muscularis: A HEREDITARY PRIMARY MYOPATHY IN THE HOUSE MOUSE.

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Defective muscle basement membrane and lack of M-laminin in the dystrophic dy/dy mouse

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Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene

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Identification of a novel mutant transcript of laminin alpha 2 chain gene responsible for muscular dystrophy and dysmyelination in dy2J mice

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Merosin, a protein specific for basement membranes of Schwann cells, striated muscle, and trophoblast, is expressed late in nerve and muscle development

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Merosin, a tissue-specific basement membrane protein, is a laminin-like protein

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Shapes, domain organizations and flexibility of laminin and fibronectin, two multifunctional proteins of the extracellular matrix

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Cloning and expression of laminin alpha 2 chain (M-chain) in the mouse.

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Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix

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A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin.

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Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage.

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Muscular dystrophies: diseases of the dystrophin-glycoprotein complex

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

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Laminin forms an independent network in basement membranes

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Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12

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

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