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You are here: Foswiki>MITOMAP/Submissions Web>VariantSubmission>AlleleExamples>VariantSubmission>20061011001 (26 Nov 2012, UnknownUser)
Unpublished Variant 20061011001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://mitomaster.mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20061011001
VariantSubmissionForm edit
| LastName | Blok |
| FirstName | Rien |
| 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 | #5.1.6.5 |
| 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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