Work

A novel mutation m.8561C>G in MT-ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism

Year: 2016

Type: article

Study design: Case Report

Source: Journal of Neurology

DOI: 10.1007/s00415-016-8249-2

Authors: Laura Kytövuori, Joonas Lipponen, Harri Rusanen, Tuomas Komulainen, Mika H. Martikainen, Kari Majamaa

Institutions: Oulu University Hospital, University of Oulu, University of Turku, Turku University Hospital

Language: English

Topic: Mitochondrial Function and Pathology

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: Medical Research Center, Hamad Medical Corporation, Oulun Yliopisto, Oulun Yliopistollinen Sairaala

OpenAlex ID: W2493399174

FWCI: 1.536

Cites: 31

Cited by: 57

Related to: 10