Počet záznamov: 1
MERRF syndróm
SYS d017243 LBL 00000cx--j22000003--45-- 005 20240119200154.8 100 $a 19920522csloy0103----ba0 152 $b mesh 250 $a MERRF syndróm $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 1993 $8 eng 300 1-
$a Epilepsy, Myoclonic (1980-1992) $8 eng 300 1-
$a Mitochondria, Muscle (1980-1992) $8 eng 330 1-
$a A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986) $8 eng 450 $a Fukuhara Disease $5 e $8 eng 450 $a Myoclonic Epilepsy with Ragged Red Fibers $5 e $8 eng 450 $a Fukuharova choroba $5 e $8 slo 450 $a epilepsia myoklonická s drsnými červenými svalovými vláknami $5 e $8 slo 686 $a C05.651.460.620.530 686 $a C10.228.140.163.100.545 686 $a C10.228.140.490.375.130.650.700 686 $a C10.228.140.490.493.063.650.700 686 $a C10.668.491.500.500.550 686 $a C16.320.565.189.545 686 $a C18.452.132.100.545 686 $a C18.452.648.189.545 686 $a C18.452.660.560.620.530 750 $a MERRF Syndrome $8 eng 801 -0
$a US $b DNLM $c 19920522 801 -2
$a SK $b BA006 $c 20040706 980 $x M
Počet záznamov: 1