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单词 Levine Critchley syndrome
释义

Levine Critchley syndrome

英语百科

Neuroacanthocytosis

(重定向自Levine Critchley syndrome)
Two heterozygous parents can produce children who are affected by the disease, carriers of the disease, or completely unaffected (wild type).
McLeod syndrome has an X-linked recessive mode of inheritance.
In this example, the affected father is heterozygous for the dominant allele. Any child that receives the dominant allele for Huntington's disease-like 2 will be affected by the disease. There is a 50% chance that a child will receive the allele from the father.

Neuroacanthocytosis is a group of genetically diverse conditions complicated by movement disorders, neurological problems and spiculated (misshapen) red blood cells. These syndromes, which include chorea acanthocytosis, McLeod syndrome, Huntington's disease-like syndrome 2 (HDL2) , and pantothenate kinase-associated neurodegeneration (PKAN), primarily affect the brain and the basal ganglia. The conditions are caused by genetic mutations of several different genes including, VPS13A, XK, JPH3 and PANK2. The mutations are inherited through various genetic mechanisms.

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