Article
Preliminary evidence for a cognitive phenotype in Barth syndrome.
American journal of medical genetics - 1 Sept 2001
Mazzocco M M, Kelley R I
Abstract excerpt
Barth syndrome (BTHS) is a rare, X-linked, recessive disorder that affects almost exclusively males. It is characterized by short stature, cardioskeletal myopathy, cyclic neutropenia, increased excretion of 3-methylglutaconic acid in the urine, and moderate hypocholesterolemia. The objective of the present study was to assess whether BTHS presents with a cognitive phenotype. Preliminary data were collected from...
Topics
- Child
- Child, Preschool
- Cognition Disorders
- Female
- Genetics, Behavioral
- Glutarates
- Growth Disorders
- Humans
- Intelligence Tests
- Male
- Muscle, Skeletal
- Muscular Diseases