Doenças neuromusculares

Rabdomiólise

Lista de Genes
ACAD9, ACADM, ACADVL, AGL, ALDOA, AMPD1, ANO5, ATP5F1D
CACNA1S, CAPN3, CAV3, CPT1A, CPT2, CTDP1
DGUOK, DMD, DYSF
ELAC2, ENO3, ETFA, ETFB, ETFDH
FDX2, FKRP, FKTN
GAA, GBE1, GMPPB, GYG1, GYS1
HADHA, HADHB, HBB
ISCU
KCNJ18
LAMP2, LDHA, LPIN1, LPIN3
MYH3
NDUFA6, NDUFS8, NUBPL
OBSCN
PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, POLG, POLG2, PRKAG2, PYGM
RBCK1, RRM2B, RYR1
SCN4A, SGCA, SIL1, SLC22A12, SLC22A5, SLC25A20, SLC2A9, SUCLA2, SUCLG1
TANGO2, TIMM50, TK2, TRAPPC2L, TSEN54, TSFM, TYMP
XK
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial incluída