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Becker muscular dystrophy (BMD) and Klinefelter's syndrome: a possible cause of variable expression of BMD within a pedigree.
We describe a man with Becker muscular dystrophy whose weakness was minimal in contrast to that of his more severely affected nephews. This man had a Klinefelter karyotype (47,XXY) and his mild symptoms may be attributed to him being heterozygous for the muscular dystrophy gene. This is the first re...
Guardat en:
| Publicat a: | J Med Genet |
|---|---|
| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMJ Publishing Group
1989
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1017298/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2716035/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.26.4.251 |
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