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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...

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Dades bibliogràfiques
Publicat a:J Med Genet
Autors principals: Suthers, G K, Manson, J I, Stern, L M, Haan, E A, Mulley, J C
Format: Artigo
Idioma:Inglês
Publicat: BMJ Publishing Group 1989
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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