Gene: [09^/AMCD1] arthrogryposis multiplex congenita, distal, type 1; [DA1 ]
|
PAT |
Distal arthrogryposis type 1 is one of the most common causes of inherited multiple congenital contractures. Bamshad-1996 revised and extended the classification of the distal arthrogryposes provided by Hall-1982. They categorized variant of Freeman-Sheldon syndrome (GEM:11p155/AMCD2B) as distal arthrogryposis type 2. On Freeman-Sheldon syndrome see also MIM:193700." |
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REL |
GEM:09^/IBM2; GEM:0X^/AMCD. |
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REF |
REV,PAT,NOM "Bamshad M &: Am J Med Genet, 65, 277-281, 1996 LIN,LOC "Bamshad M &: AJHG, 55, 1153-1158, 1994 PAT,REV "Hall JG &: Am J Med Genet, 11, 185-239, 1982 PAT "Klemp P, Hall JG: Am J Med Genet, 55, 414-419, 1995 |
|
KEY |
myo, devd |
|
CLA |
unknown, basic |
|
LOC |
09 p22-q22.3 |
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MIM |
MIM: 108120 |
|
SYN |
DA1 |
