Article
Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome.
Movement disorders : official journal of the Movement Disorder Society - 15 Jan 2007
Walker Ruth H, Jung Hans H, Tison François, Lee Soohee, Danek Adrian
Abstract excerpt
McLeod syndrome is an X-linked multisystem disorder affecting red blood cells, the peripheral and central nervous systems, and skeletal and cardiac muscle. No clear correlations of the clinical findings with the genotype of XK mutations have yet been uncovered. Here, we report the clinical features and progression in 10 affected brothers from 4 families with McLeod syndrome. There is significant variation in...
Topics
- Adult
- Age Factors
- Amino Acid Transport Systems, Neutral
- Atrial Fibrillation
- Brain
- Central Nervous System Diseases
- Chorea
- Chromosomes, Human, X
- Genetic Variation
- Genotype
- Humans
- Magnetic Resonance Imaging
- Male
- Muscle Weakness
- Muscle, Skeletal
- Myocardium
- Peripheral Nervous System Diseases
- Phenotype