Molecular genetic characterization of an X-linked form of Leigh's syndrome
β Scribed by MD; DPhil; Frcpc P. M. Matthews; PhD D. R. Marchington; MRCP; MRCPath M. Squier; MRCPath; PhD J. Land; MSc R. M. Brown; Dr.; BM; PhD G. K. Brown
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 868 KB
- Volume
- 33
- Category
- Article
- ISSN
- 0364-5134
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We have previously described thoracoabdominal syndrome [TAS;Carmi et al., 19901 and mapped the gene to Xq25-26 [Parvari et al., 19941. After using new polymorphic markers made available since the previous publication, and detecting a reading error of one allele of a CA repeat a t the DXSlO2 locus in
## Abstract Duchenne muscular dystrophy is an Xβlinked condition at the severe end of the spectrum of dystrophinopathies. Females with dystrophin mutations are at risk for cardiomyopathy, but are usually asymptomatic during childhood. However, some girls can exhibit features of Duchenne muscular dy