000 | 01233 a2200349 4500 | ||
---|---|---|---|
005 | 20250517160954.0 | ||
264 | 0 | _c20180502 | |
008 | 201805s 0 0 eng d | ||
022 | _a1873-2364 | ||
024 | 7 |
_a10.1016/j.nmd.2017.05.004 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aHedberg-Oldfors, Carola | |
245 | 0 | 0 |
_aGrand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male. _h[electronic resource] |
260 |
_bNeuromuscular disorders : NMD _cSep 2017 |
||
300 |
_a843-847 p. _bdigital |
||
500 | _aPublication Type: Journal Article | ||
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aGenes, X-Linked |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aInfant, Newborn |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMosaicism |
650 | 0 | 4 |
_aMutation _xgenetics |
650 | 0 | 4 |
_aMyopathies, Structural, Congenital _xgenetics |
650 | 0 | 4 |
_aPaternal Inheritance _xgenetics |
700 | 1 | _aVisuttijai, Kittichate | |
700 | 1 | _aTopa, Alexandra | |
700 | 1 | _aTulinius, Mar | |
700 | 1 | _aOldfors, Anders | |
773 | 0 |
_tNeuromuscular disorders : NMD _gvol. 27 _gno. 9 _gp. 843-847 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.nmd.2017.05.004 _zAvailable from publisher's website |
999 |
_c27285573 _d27285573 |