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The expanding phenotype of laminin α2 chain (merosin) abnormalities: case series and review

Initial reports of patients with laminin α2 chain (merosin) deficiency had a relatively homogeneous phenotype, with classical congenital muscular dystrophy (CMD) characterised by severe muscle weakness, inability to achieve independent ambulation, markedly raised creatine kinase, and characteristic...

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Bibliografiske detaljer
Main Authors: Jones, K., Morgan, G., Johnston, H., Tobias, V., Ouvrier, R., Wilkinson, I., North, K.
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Group 2001
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734735/
https://ncbi.nlm.nih.gov/pubmed/11584042
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.38.10.649
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