Počet záznamov: 1
dystrofia myotonická
SYS d009223 LBL 00000cx--j2200000---45-- 005 20240119201534.3 100 $a 19991108asloy0103----ba0 152 $b mesh 250 $a dystrofia myotonická $x BL $x CF $x CI $x CL $x CO $x DG $x DH $x DI $x DT $x EC $x EH $x EM $x EN $x EP $x ET $x GE $x HI $x IM $x ME $x MI $x MO $x NU $x PA $x PC $x PP $x PS $x PX $x RH $x RT $x SU $x TH $x UR $x VE $x VI $8 slo 300 1-
$a 2000(1966) $8 eng 330 1-
$a Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2. $8 eng 450 $a Dystrophia Myotonica $5 e $8 eng 450 $a Myotonic Dystrophy, Congenital $5 e $8 eng 450 $a Myotonic Myopathy, Proximal $5 e $8 eng 450 $a Steinert Disease $5 e $8 eng 450 $a dystrophia myotonica $5 e $8 slo 450 $a Steinertova choroba $5 e $8 slo 450 $a dystrofia myotonická kongenitálna $5 e $8 slo 450 $a dystrofia myotonická vrodená $5 e $8 slo 450 $a myotonia atrophica $5 e $8 slo 450 $a myopatia myotonická proximálna $5 e $8 slo 450 $a Rickerov syndróm $5 e $8 slo 550 $3 sllk_un_auth*d042622 $Y DNA Repeat Expansion $5 F $a expanzia repetícií DNA 550 $3 sllk_un_auth*d065636 $Y Myotonin-Protein Kinase $5 F $a myotonín proteínkináza 550 $3 sllk_un_auth*d019680 $Y Trinucleotide Repeat Expansion $5 F $a expanzia trinukleotidových repetícií 550 $3 sllk_un_auth*d019680 $Y Trinucleotide Repeat Expansion $5 B $a expanzia trinukleotidových repetícií 550 $3 sllk_un_auth*d065636 $Y Myotonin-Protein Kinase $5 B $a myotonín proteínkináza 686 $a C05.651.534.500.500 686 $a C05.651.662.750 686 $a C10.574.500.547 686 $a C10.668.491.175.500.500 686 $a C10.668.491.606.750 686 $a C16.320.400.542 686 $a C16.320.577.500 750 $a Myotonic Dystrophy $8 eng 801 -0
$a US $b DNLM $c 19991108 801 -2
$a SK $b BA006 $c 20021024 801 -2
$a SK $b BA006 $c 20091014 801 -2
$a SK $b BA006 $c 20150923 820 $a do not confuse with MUSCULAR DYSTROPHIES $8 eng 980 $x M
Počet záznamov: 1