Unpublished Variant 20061011001

This is a record of an observed human mtDNA variant submitted to MITOMAP

  • Submitters may return to this page at any time to update the information. Submitters who wish to amend a record submitted before November 2009 must register and send an email to mitomap@email.chop.edu to obtain editing privileges on the page.
  • Submitted by: Dhananjaya Saranath
  • MITOMAP list of submitted variants
  • MITOMASTER allele analysis

Citing this variant:
Blok, Rien; Smeets, Bert 2003. MITOMAP mtDNA Sequence Data, https://mitowiki.research.chop.edu/foswiki/bin/view/MITOMAP/Submissions/20061011001

VariantSubmissionForm edit

LastName Blok
FirstName Rien
Email rien.blok@gen.unimaas.nl
OrganizationName Clinical Genetics, University Hospital Maastricht
Country the Netherlands
Address P. Debyelaan 1, 6202 AZ, Maastricht
PILastName Smeets
PIFirstName Bert
PIEmail bert.smeets@molcelb.unimaas.nl
PolymorphismPosition 12622
Polymorphism A
AlleleType polymorphism
NAChange G-A
AAChange V-I
Locus MT-ND5
Detection DHPLC
SampleID #
Tissue muscle
Phenotype Leigh Syndrome
Ethnicity Caucasian
Origin Netherlands
Haplogroup unknown
Comment Leigh syndrome in combination with cardiomyopathy. Low level mutations in muscle of affected patients (23-28 pct). Complex I, III, IV reduced in muscle.
Topic revision: r1 - 26 Nov 2012, UnknownUser

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