FCMD - What does FCMD stand for? The Free Dictionary
References in periodicals archive
MEB has similar severity to FCMD
and presents with significant eye involvement (such as severe myopia and retinal hypoplasia), mental retardation, and structural brain involvement.
Sindrome de Walker-Warburg: 4 genes defini-dos, FCMD
(Fukutin), POMT1 (proteina-O-manosiltransferasa 1), POMT2 (proteina-O-manosiltransferasa 2 putativa) y FKRP.
Severe mutations in the FCMD gene lead to WWS (158, 159).
Laboratory findings: In both FCMD and WWS patients, serum creatine kinase was increased.