Doenças neuromusculares

Distrofias musculares

Lista de Genes
ACTA1, ANO5
B3GALNT2, B4GAT1, BVES
CAPN3, CAV3, CHKB, COL12A1, COL6A1, COL6A2, COL6A3, CRPPA
DAG1, DMD, DNAJB6, DNM2, DYSF
EMD
FHL1, FKRP, FKTN
GAA, GGPS1, GMPPB, GOSR2
HNRNPDL
INPP5K, ITGA7
JAG2
LAMA2, LARGE1, LIMS2, LMNA
MYOT
PLEC, PNPLA2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POPDC3
RXYLT1, RYR1
SELENON, SGCA, SGCB, SGCD, SGCG, SYNE1, SYNE2
TCAP, TMEM43, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial incluída