Duchenne dystrophy (DMD) is an X-linked lethal condition which affects 1 in 3,500 boys. The DMD gene is deleted in about 60-65% of patients while in the remaining 35-40% the condition is caused by point mutations, small insertions, or duplications. We have ascertained 967 DMD families (680 isolated
Different behavior in the paternally vs. maternally inherited mutated allele in Brazilian Machado-Joseph (MJD1) Families
β Scribed by Iughetti, Paula; Otto, Paulo A.; Zatz, Mayana; Bueno, Maria Rita Passos; Marie, Suely K.
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 10 KB
- Volume
- 77
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19980518)77:3<246::aid-ajmg11>3.0.co;2-g
No coin nor oath required. For personal study only.
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In this study we characterized clinically and evaluated molecularly a large family with maternally inherited hearing impairment. Relatives were evaluated audiologically and clinically, the most likely pattern of inheritance was deduced, and molecular DNA analysis for the known mitochondrial mutation
We have replicated the observation of Mc-Mahon et al. [1995] that there ir. excess maternal transmission of illness in a series of previously described unilineal Bipolar manic-depressive illness extended pedigrees [Berrettini et al., 19911. ("Transmission" is defined for any ill person in a pedigree
We used a non-isotopic polymerase chain reaction (PCR) technique for fragile X syndrome diagnosis to screen 256 mentally retarded boys who were selected randomly from special schools. Patients identified as pre- or full-mutation carriers were further investigated by Southern blot analysis with the S
Jodie Devlin's suicide is not the end, merely the beginning. With her future as a living human being irrevocably destroyed, she must become an employee of the Afterlife until a new existence can be created for her. In the realm on the other side of death, sheβll learn how to retrieve ghosts who have