000 | 01362 a2200397 4500 | ||
---|---|---|---|
005 | 20250517105404.0 | ||
264 | 0 | _c20170817 | |
008 | 201708s 0 0 eng d | ||
022 | _a1097-4598 | ||
024 | 7 |
_a10.1002/mus.25262 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aFragaki, Konstantina | |
245 | 0 | 0 |
_aSevere defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9-deficient mild myopathy. _h[electronic resource] |
260 |
_bMuscle & nerve _c06 2017 |
||
300 |
_a919-922 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article | ||
650 | 0 | 4 |
_aAcyl-CoA Dehydrogenases _xgenetics |
650 | 0 | 4 | _aAdult |
650 | 0 | 4 | _aConsanguinity |
650 | 0 | 4 | _aDNA Mutational Analysis |
650 | 0 | 4 |
_aDNA, Mitochondrial _xgenetics |
650 | 0 | 4 |
_aElectron Transport Complex I _xgenetics |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aMuscular Diseases _xgenetics |
650 | 0 | 4 |
_aMutation _xgenetics |
700 | 1 | _aChaussenot, Annabelle | |
700 | 1 | _aBoutron, Audrey | |
700 | 1 | _aBannwarth, Sylvie | |
700 | 1 | _aCochaud, Charlotte | |
700 | 1 | _aRichelme, Christian | |
700 | 1 | _aSacconi, Sabrina | |
700 | 1 | _aPaquis-Flucklinger, Veronique | |
773 | 0 |
_tMuscle & nerve _gvol. 55 _gno. 6 _gp. 919-922 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/mus.25262 _zAvailable from publisher's website |
999 |
_c26247133 _d26247133 |