A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise intolerance.

Johannes A. Mayr; Ali-Reza Moslemi; Holger Förster; Adrian Kamper; Carmen Idriceanu; Wolfgang Muss; Michael Huemer; Anders Oldfors; Wolfgang Sperl

doi:10.1016/j.nmd.2006.08.010

A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise intolerance.

Johannes A. Mayr^* (Erstautor/-in)
, Ali-Reza Moslemi
, Holger Förster
, Adrian Kamper
, Carmen Idriceanu
, Wolfgang Muss (Co-Autor/-in)
, Michael Huemer
, Anders Oldfors
, Wolfgang Sperl (Letztautor/-in)

^*Korrespondierende/r Autor/-in für diese Arbeit

Publikation: Beitrag in Fachzeitschrift › Fallbericht › Begutachtung

12 Quellenangaben (Web of Science)

Originalsprache	Englisch
Seiten (von - bis)	874-877
Fachzeitschrift	NEUROMUSCULAR DISORDERS
Jahrgang	16
Ausgabenummer	12
DOIs	https://doi.org/10.1016/j.nmd.2006.08.010
Publikationsstatus	Veröffentlicht - 2006

Zugriff auf Dokument

10.1016/j.nmd.2006.08.010

Dieses zitieren

Mayr, J. A., Moslemi, A.-R., Förster, H., Kamper, A., Idriceanu, C., Muss, W., Huemer, M., Oldfors, A., & Sperl, W. (2006). A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise intolerance. NEUROMUSCULAR DISORDERS , 16(12), 874-877. https://doi.org/10.1016/j.nmd.2006.08.010

Mayr, Johannes A. ; Moslemi, Ali-Reza ; Förster, Holger et al. / A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise intolerance. in: NEUROMUSCULAR DISORDERS 2006 ; Jahrgang 16, Nr. 12. S. 874-877.

@article{235fa259792b456e9c2f8cfee0be0f8f,

title = "A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise intolerance.",

keywords = "HETEROPLASMIC MUTATIONS, DNA, ENCEPHALOMYOPATHIES, DELETIONS, MTDNA",

author = "Mayr, \{Johannes A.\} and Ali-Reza Moslemi and Holger F{\"o}rster and Adrian Kamper and Carmen Idriceanu and Wolfgang Muss and Michael Huemer and Anders Oldfors and Wolfgang Sperl",

note = "Mayr, F{\"o}rster, Kamper, Sperl: University Children{\textquoteright}s Hospital, Paracelsus Private Medical University, M{\"u}llner Hauptstr. 48, A-5020 Salzburg, Austria; Idriceanu, Muss: Department of Pathology, Paracelsus Private Medical University, Salzburg, Austria",

year = "2006",

doi = "10.1016/j.nmd.2006.08.010",

language = "English",

volume = "16",

pages = "874--877",

journal = "NEUROMUSCULAR DISORDERS ",

issn = "0960-8966",

publisher = "Elsevier ",

number = "12",

}

Mayr, JA, Moslemi, A-R, Förster, H, Kamper, A, Idriceanu, C, Muss, W, Huemer, M, Oldfors, A & Sperl, W 2006, 'A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise intolerance.', NEUROMUSCULAR DISORDERS , Jg. 16, Nr. 12, S. 874-877. https://doi.org/10.1016/j.nmd.2006.08.010

A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise intolerance. / Mayr, Johannes A. (Erstautor/-in); Moslemi, Ali-Reza; Förster, Holger et al.
in: NEUROMUSCULAR DISORDERS , Jahrgang 16, Nr. 12, 2006, S. 874-877.

Publikation: Beitrag in Fachzeitschrift › Fallbericht › Begutachtung

TY - JOUR

T1 - A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise intolerance.

AU - Mayr, Johannes A.

AU - Moslemi, Ali-Reza

AU - Förster, Holger

AU - Kamper, Adrian

AU - Idriceanu, Carmen

AU - Muss, Wolfgang

AU - Huemer, Michael

AU - Oldfors, Anders

AU - Sperl, Wolfgang

N1 - Mayr, Förster, Kamper, Sperl: University Children’s Hospital, Paracelsus Private Medical University, Müllner Hauptstr. 48, A-5020 Salzburg, Austria; Idriceanu, Muss: Department of Pathology, Paracelsus Private Medical University, Salzburg, Austria

PY - 2006

Y1 - 2006

KW - HETEROPLASMIC MUTATIONS

KW - DNA

KW - ENCEPHALOMYOPATHIES

KW - DELETIONS

KW - MTDNA

U2 - 10.1016/j.nmd.2006.08.010

DO - 10.1016/j.nmd.2006.08.010

M3 - Case report

C2 - 17056256

SN - 0960-8966

VL - 16

SP - 874

EP - 877

JO - NEUROMUSCULAR DISORDERS

JF - NEUROMUSCULAR DISORDERS

IS - 12

ER -

Mayr JA, Moslemi AR, Förster H, Kamper A, Idriceanu C, Muss W et al. A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise intolerance. NEUROMUSCULAR DISORDERS . 2006;16(12):874-877. doi: 10.1016/j.nmd.2006.08.010