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PLA2G6 Mutation Underlies Infantile Neuroaxonal Dystrophy

  October, 13 2006 10:56
your information resource in human molecular genetics
Infantile neuroaxonal dystrophy (INAD) is an autosomal recessive progressive neurodegenerative disease that presents within the first 2 years of life and culminates in death by age 10 years. Affected individuals from two unrelated Bedouin Israeli kindreds were studied, and the results published in the American Journal of Human Genetics Vol. 79, pp.942-948). The study findings highlight a role of phospholipase in neurodegenerative disorders.

Ohad S. Birk
Genetics Institute Soroka Medical Center, Beer-Sheva, Israel.

Abstract available online.

(C) American Journal of Human Genetics .

Message posted by: Trevor M. D'Souza

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