Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype

Approved

Classifications

MinEdu publication type
A1 Journal article (peer-reviewed)
Name
A1
Category
Artikkeli
Refereed
Kyllä
Sub category
Tieteellinen aikakauslehti
Type
Alkuperäisartikkeli

Authors of the publication

Number of authors
4
Authors
Kärppä, Mikko; Kytövuori, Laura; Saari, Markku; Majamaa, Kari

Publication channel information

Title of journal/series
Bmc neurology
ISSN (electronic)
1471-2377
ISSN (linking)
1471-2377
Publication forum ID
52537
Publication forum level
1
Country of publication
United Kingdom
Internationality
Yes

Detailed publication information

Publication year
2018
Reporting year
2018
Journal/series volume number
18
Page numbers
Article number
149
DOI
10.1186/s12883-018-1159-4
Language of publication
English

Co-publication information

International co-publication
No
Co-publication with a company
No

Availability

Link to self-archived version
http://urn.fi/urn:nbn:fi-fe2018102338604

Classification and additional information

MinEdu field of science classification
3124 Neurology and psychiatry, 3111 Biomedicine
Keywords
Case report; Mitochondrial diseases; Mitochondrial tRNA(Thr); Single-fibre analysis; Neuromuscular disorders; Case report; Mitochondrial diseases; Mitochondrial tRNA(Thr); Single-fibre analysis; Neuromuscular disorders
Additional information
https://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC6147040&blobtype=pdf

Source database ID

WoS ID
WOS:000445258700002
Scopus ID
2-s2.0-85055107288