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dystrofia myotonická
SYS d009223 LBL 00000cz--a2200000n--4500 005 20250606213147.1 008 991108|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 $d BA006 $d BA006 065 $a C05.651.534.500.500 065 $a C05.651.662.750 065 $a C10.574.500.547 065 $a C10.668.491.175.500.500 065 $a C10.668.491.606.750 065 $a C16.320.400.542 065 $a C16.320.577.500 066 $a 01 $c 03 150 $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 $2 slo 450 $w v $a Dystrophia Myotonica $2 eng 450 $w v $a Myotonic Dystrophy, Congenital $2 eng 450 $w v $a Myotonic Myopathy, Proximal $2 eng 450 $w v $a Steinert Disease $2 eng 450 $w v $a dystrophia myotonica $2 slo 450 $w v $a Steinertova choroba $2 slo 450 $w v $a dystrofia myotonická kongenitálna $2 slo 450 $w v $a dystrofia myotonická vrodená $2 slo 450 $w v $a myotonia atrophica $2 slo 450 $w v $a myopatia myotonická proximálna $2 slo 450 $w v $a Rickerov syndróm $2 slo 550 $7 sllk_us_auth*d019680 $Y Trinucleotide Repeat Expansion $w p $a expanzia trinukleotidových repetícií 550 $7 sllk_us_auth*d042622 $Y DNA Repeat Expansion $w p $a expanzia repetícií DNA 550 $7 sllk_us_auth*d065636 $Y Myotonin-Protein Kinase $w p $a myotonín proteínkináza 550 $7 sllk_us_auth*d019680 $Y Trinucleotide Repeat Expansion $w b $a expanzia trinukleotidových repetícií 550 $7 sllk_us_auth*d065636 $Y Myotonin-Protein Kinase $w b $a myotonín proteínkináza 665 $a 2000(1966) $2 eng 680 9-
$i 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. $2 eng 680 $a do not confuse with MUSCULAR DYSTROPHIES $2 eng 750 -2
$a Myotonic Dystrophy $2 eng 980 $x M
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