Gene: [12^/FEOM1] fibrosis of the extraocular muscles, congenital; [FEOM ]
|
PAT |
Affected individuals are born with a nonprogressive eye movement disorder characterized by bilateral ptosis and restrictive ophthalmoplegia with globes 'frozen' in extreme infraduction. Ability to adduct, elevate, or depress the globes is absent." |
|
REL |
GEM:11q131/FEOM2. |
|
REF |
LIN,LOC "Engle EC &: AJHG, 57, 1086-1094, 1995 LIN,LOC "Engle EC &: Nature Genet, 7, 69-73, 1994 |
|
KEY |
myo, eye |
|
CLA |
unknown, basic |
|
LOC |
12 p11.2-q12 |
|
MIM |
MIM: 135700 |
|
SYN |
FEOM |
