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