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Genetic and Rare Diseases Information Center (GARD)

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Maternally inherited Leigh syndrome


Other Names for this Disease
  • Leigh disease, maternally inherited
  • MILS
  • Subacute necrotizing encephalomyelopathy maternally inherited
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Overview


Maternally inherited Leigh syndrome (MILS) is a progressive brain disorder that usually appears in infancy or early childhood.[1] Affected children may experience vomiting, seizures, delayed development, muscle weakness, and problems with movement. Heart disease, kidney problems, and difficulty breathing can also occur in people with this disorder. MILS is a subtype of Leigh syndrome and is caused by changes in mitochondrial DNA. Mutations in at least 11 mitochondrial genes have been found to cause MILS.[2] This condition has an inheritance pattern known as maternal or mitochondrial inheritance. Because mitochondria can be passed from one generation to the next only through egg cells (not through sperm cells), only females pass MILS to their children.
Last updated: 12/29/2009

References

  1. MT-ATP6. Genetics Home Reference. November 2006; http://ghr.nlm.nih.gov/gene=mtatp6. Accessed 12/29/2009.
  2. Thornburn DR, Rahman SR. Mitochondrial DNA-Associated Leigh Syndrome and NARP. GeneReviews. September 22, 2006; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=narp. Accessed 12/29/2009.
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Basic Information

  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Neuromuscular Disease Center at Washington University provides information about Leigh syndrome.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Maternally inherited Leigh syndrome. Click on the link to view a sample search on this topic.

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