000 | 01658 a2200457 4500 | ||
---|---|---|---|
005 | 20250515210403.0 | ||
264 | 0 | _c20100426 | |
008 | 201004s 0 0 eng d | ||
022 | _a1468-330X | ||
024 | 7 |
_a10.1136/jnnp.2008.158261 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aTurner, Chris | |
245 | 0 | 0 |
_aThe myotonic dystrophies: diagnosis and management. _h[electronic resource] |
260 |
_bJournal of neurology, neurosurgery, and psychiatry _cApr 2010 |
||
300 |
_a358-67 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Review | ||
650 | 0 | 4 | _aBlotting, Southern |
650 | 0 | 4 |
_aChromosomes, Human, Pair 19 _xgenetics |
650 | 0 | 4 |
_aCreatine _xmetabolism |
650 | 0 | 4 |
_aDNA Sequence, Unstable _xgenetics |
650 | 0 | 4 |
_aDehydroepiandrosterone _xmetabolism |
650 | 0 | 4 | _aDiagnosis, Differential |
650 | 0 | 4 | _aFacial Expression |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 |
_aGenetic Therapy _xmethods |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aInsulin-Like Growth Factor Binding Protein 1 _xmetabolism |
650 | 0 | 4 |
_aMuscle, Skeletal _xenzymology |
650 | 0 | 4 |
_aMyotonic Dystrophy _xdiagnosis |
650 | 0 | 4 | _aMyotonin-Protein Kinase |
650 | 0 | 4 |
_aPoint Mutation _xgenetics |
650 | 0 | 4 | _aPregnancy |
650 | 0 | 4 | _aPrenatal Diagnosis |
650 | 0 | 4 | _aPrognosis |
650 | 0 | 4 |
_aProtein Serine-Threonine Kinases _xgenetics |
650 | 0 | 4 |
_aRNA Splicing _xgenetics |
650 | 0 | 4 |
_aTrinucleotide Repeat Expansion _xgenetics |
700 | 1 | _aHilton-Jones, David | |
773 | 0 |
_tJournal of neurology, neurosurgery, and psychiatry _gvol. 81 _gno. 4 _gp. 358-67 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1136/jnnp.2008.158261 _zAvailable from publisher's website |
999 |
_c19545688 _d19545688 |