Doenças neuromusculares

Miopatias miofibrilares e distais

Lista de Genes
ACTA1 (HGNC:129), ADSS1 (HGNC:20093), ANO5 (HGNC:27337)
BAG3 (HGNC:939)
CAV3 (HGNC:1529), CRYAB (HGNC:2389)
DES (HGNC:2770), DNAJB6 (HGNC:14888), DNM2 (HGNC:2974), DYSF (HGNC:3097)
FHL1 (HGNC:3702), FLNC (HGNC:3756)
GNE (HGNC:23657)
KY (HGNC:26576)
LDB3 (HGNC:15710)
MATR3 (HGNC:6912), MYH7 (HGNC:7577), MYOT (HGNC:12399)
NEB (HGNC:7720)
PYROXD1 (HGNC:26162)
SELENON (HGNC:15999), SQSTM1 (HGNC:11280), SVIL (HGNC:11480)
TIA1 (HGNC:11802), TTN (HGNC:12403)
UNC45B (HGNC:14304)
VCP (HGNC:12666)
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial incluída