by R d G. Worton Charcot-Marie tooth disease, a pathologically and genetically heterogeneous group of disorders that causes a progressive neuropathy, is characterized by weakness and atrophy, primarily in peroneal and distal leg muscles. It is defined patholog-Mutation leads to 10s:. of this Mae 111
X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy
✍ Scribed by Daniel Fernandez-Moreira; Cristina Ugalde; Roel Smeets; Richard J. T. Rodenburg; Eduardo Lopez-Laso; Maria L. Ruiz-Falco; Paz Briones; Miguel A. Martin; Jan A. M. Smeitink; Joaquín Arenas
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 407 KB
- Volume
- 61
- Category
- Article
- ISSN
- 0364-5134
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
The XLRS1 gene (HUGO-approved symbol, RS1) has been found to cause X-linked recessive retinoschisis (RS) which is characterized by splitting of the superficial layer of the retina. Recent mutation analysis of this gene revealed 82 different mutations in 214 patients with RS. We have now identified 1
## X-linked adrenal hypoplasia congenita (AHC) is characterized by primary adrenal insufficiency and is frequently associated with hypogonadotropic hypogonadism (HHG). Mutations of the DAX1 gene have been reported in patients with AHC and HHG. We found a novel DAX1 mutation in our patient. Sequenc
X-linked hydrocephalus is caused by mutations in the gene for neural cell adhesion molecule L1 (L1CAM). In this report, we describe identification of a mutation in an isolated case of hydrocephalus with adducted thumbs. Tracing the origin of the mutation within the family showed a degree of somatic