Gene: [0X^/AMCD] arthrogryposis multiplex congenita, distal; arthrogryposis, X-linked, type 1; spinal muscular atrophy, infantile X-linked (ISMA1); [ISMA1 ]
|
REF |
PAT "Greenberg F &: Am J Dis Child, 142, 217-219, 1988 PAT "Hennekam RCM &: Eur J Pediatr, 150, 656-660, 1991 LIN,LOC "Kobayashi H &: Hum Mol Genet, 4, 1213-1216, 1995 |
|
KEY |
myo |
|
CLA |
unknown, basic |
|
LOC |
0X p11.3-q11.2 |
|
MIM |
MIM: 301830 |
|
SYN |
ISMA1 |
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