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myotónia kongenitálna
SYS d009224 LBL 00000cx--j22000003--45-- 005 20240119195826.2 100 $a 19990101csloy0103----ba0 152 $b mesh 250 $a myotónia kongenitálna $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 330 1-
$a Inherited myotonic disorders with early childhood onset MYOTONIA. Muscular hypertrophy is common and myotonia may impair ambulation and other movements. It is classified as Thomsen (autosomal dominant) or Becker (autosomal recessive) generalized myotonia mainly based on the inheritance pattern. Becker type is also clinically more severe. An autosomal dominant variant with milder symptoms and later onset is known as myotonia levior. Mutations in the voltage-dependent skeletal muscle chloride channel are associated with the disorders. $8 eng 450 $a Becker Generalized Myotonia $5 e $8 eng 450 $a Myotonia, Generalized, Becker $5 e $8 eng 450 $a Thomsen Disease $5 e $8 eng 450 $a myotonia congenita hereditaria Thomsen $5 e $8 slo 450 $a Beckerova generalizovaná myotónia $5 e $8 slo 450 $a Thomsenova choroba $5 e $8 slo 686 $a C05.651.662.500 686 $a C10.574.500.545 686 $a C10.668.491.606.500 686 $a C16.320.400.540 750 $a Myotonia Congenita $8 eng 801 -0
$a US $b DNLM $c 19990101 801 -2
$a SK $b BA006 $c 20020709 980 $x M
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