Mitochondrial  DNA  mutation load in a family with the m.8344A>G point mutation and lipomas: a case study | Zendy

Jeppesen Tina Dysgaard | Zendy; AlHashimi Noor | Zendy; Duno Morten | Zendy; Wibrand Flemming | Zendy; Andersen Grete | Zendy; Vissing John | Zendy

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Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study

Author(s) -

Jeppesen Tina Dysgaard,

AlHashimi Noor,

Duno Morten,

Wibrand Flemming,

Andersen Grete,

Vissing John

Publication year - 2017

Publication title -

clinical case reports

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.21

H-Index - 9

ISSN - 2050-0904

DOI - 10.1002/ccr3.1096

Subject(s) - mutation , point mutation , mitochondrial dna , medicine , genotype , genetics , phenotype , dna , microbiology and biotechnology , biology , gene

Key Clinical Message Studies have shown that difference in mt DNA mutation load among tissues is a result of postnatal modification. We present five family members with the m.8344A>G with variable phenotypes but uniform intrapersonal distribution of mutation load, indicating that there is no postnatal modification of mt DNA mutation load in this genotype.

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