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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...
Tallennettuna:
| Päätekijät: | , , , , , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
BMJ Group
2001
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| Aiheet: | |
| Linkit: | 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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