Doenças neuromusculares

Miopatias metabólicas e rabdomiólise

Lista de Genes
ABHD5, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, AGL, ALDOA, AMPD1, ANO5, ATP5F1D
CACNA1S, CAPN3, CAV3, CPT1A, CPT2, CTDP1
DGUOK, DMD, DYSF
ECHS1, ELAC2, ENO3, ETFA, ETFB, ETFDH
FBP1, FDX2, FKRP, FKTN, FLAD1
G6PC1, GAA, GBE1, GMPPB, GYG1, GYS1
HADH, HADHA, HADHB, HBB, HMGCL
ISCU
KCNJ18
LAMP2, LDHA, LPIN1, LPIN3
MYH3
NDUFA6, NDUFS8, NUBPL
OBSCN
PDHA1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PHKG2, PNPLA2, PNPLA8, POLG, POLG2, PRKAG2, PUS1, PYGM
RBCK1, RRM2B, RYR1
SCN4A, SGCA, SIL1, SLC16A1, SLC22A12, SLC22A5, SLC25A20, SLC2A9, SUCLA2, SUCLG1
TAFAZZIN, TANGO2, TIMM50, TK2, TRAPPC2L, TSEN54, TSFM, TYMP
XK
YARS2
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial incluída