Unpublished Variant 20020410003

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://mitowiki.research.chop.edu/foswiki/bin/view/MITOMAP/Submissions/20020410003

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
PolymorphismPosition 15310
Polymorphism C
AlleleType polymorphism
NAChange T-C
AAChange syn
Locus MT-CYB
Detection automated
SampleID BI
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 pitutary hypoplasia. No definitive diagnosis was established so far. The following polymorphisms were detected in the mitochondrial genome:14470 T-C, 15310 T-C, none of which cause an amino acid change.
Topic revision: r1 - 26 Nov 2012, UnknownUser

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