000 01363 a2200421 4500
005 20250517123451.0
264 0 _c20180126
008 201801s 0 0 eng d
022 _a1873-2364
024 7 _a10.1016/j.nmd.2016.09.012
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aMorel, Godelieve
245 0 0 _aA new mutation in the mitochondrial tRNA
_h[electronic resource]
260 _bNeuromuscular disorders : NMD
_cDec 2016
300 _a885-889 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _aChild
650 0 4 _aDNA, Mitochondrial
650 0 4 _aGenes, Mitochondrial
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aMitochondrial Myopathies
_xgenetics
650 0 4 _aMuscle, Skeletal
_xpathology
650 0 4 _aMutation
650 0 4 _aPhenotype
650 0 4 _aRNA, Transfer, Pro
_xgenetics
700 1 _aBannwarth, Sylvie
700 1 _aChaussenot, Annabelle
700 1 _aCano, Aline
700 1 _aFragaki, Konstantina
700 1 _aAit-El-Mkadem, Samira
700 1 _aRouzier, Cecile
700 1 _aDe Paula, Andre Maues
700 1 _aChabrol, Brigitte
700 1 _aPaquis-Flucklinger, Veronique
773 0 _tNeuromuscular disorders : NMD
_gvol. 26
_gno. 12
_gp. 885-889
856 4 0 _uhttps://doi.org/10.1016/j.nmd.2016.09.012
_zAvailable from publisher's website
999 _c26579790
_d26579790