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The Xq22 Inversion Breakpoint Interrupted a Novel Ras-Like GTPase Gene in a Patient with Duchenne Muscular Dystrophy and Profound Mental Retardation
A male patient with profound mental retardation, athetosis, nystagmus, and severe congenital hypotonia (Duchenne muscular dystrophy [DMD]) was previously shown to carry a pericentric inversion of the X chromosome, 46,Y,inv(X)(p21.2q22.2). His mother carried this inversion on one X allele. The patien...
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| Hoofdauteurs: | , , , , , , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
The American Society of Human Genetics
2002
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC379199/ https://ncbi.nlm.nih.gov/pubmed/12145744 |
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