Unpublished Variant 20020410002

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

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  • Submitted by: Dhananjaya Saranath
  • MITOMAP list of submitted variants
  • MITOMASTER allele analysis


Citing this variant:
Melegh, Bela; Bene, Judit; Komlosi, Katalin; Havasi, Viktoria 2003. MITOMAP mtDNA Sequence Data, https://www.mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20020410002


VariantSubmissionForm edit

LastName Melegh
FirstName Bela
Email Bela.Melegh@aok.pte.hu
OrganizationName Dept. of Medical Genetics and Child Development
Country Hungary
Address University of PecsĂșculty of Medicine%Szigeti u. 12.%H-7624 Pecs
PILastName Melegh
PIFirstName Bela
PIEmail Bela.Melegh@aok.pte.hu
OtherContributor Bene, Judit; Komlosi, Katalin; Havasi, Viktoria
Detection automated
SampleID BI 7.8.1.0.0.6
Tissue blood
Phenotype Myopathy (unknown), Bilateral Ptosis
Ethnicity Caucasian
Origin Hungary
Haplogroup -
Comment Our patient presented with the following symptoms: muscle weakness,bilateral ptosis, short stature, facial anomalies, mental retardation, radiologic evidence of pituitary hypoplasia. The following polymorphisms were detected in the mitochondrial genome: 14470 T-C, 15310 T-C, none of them cause an amino acid change. The 15034 A-Gpolymorphism was also detected in 5 patients of another family.
Topic revision: r1 - 26 Nov 2012, UnknownUser

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