Disease name
선천 다발관절 굽음증
Arthrogryposis multiplex congenita
Marker gene
Gene symbol
Chromosome location
Protein name
TNNT3
11p15.5
Troponin T, fast skeletal muscle
VPS33B
15q26.1
Vacuolar protein sorting-associated protein 33B
VIPAR
14q24.3
VPS33B-interacting protein
TNNI2
11p15.5
Troponin I, fast skeletal muscle
Prevalence
1-5 / 10 000
Inheritance
산발성, X 연관 열성, 상염색체 열성
Age of onset
신생아기, 영아기
ICD 10 code
Q74.3
MIM number
108110
Synonym
Amyoplasia congenita
Myodysplasia
Summary
Under development.