Disease name
|
Scapuloperoneal amyotrophy
Scapuloperoneal amyotrophy
|
|
Marker gene
|
Gene symbol
|
Chromosome location
|
Protein name
|
TRPV4
|
12q24.11 |
Transient receptor potential cation channel subfamily V member 4 |
|
|
Inheritance
|
X 연관 우성, 상염색체 우성 |
|
ICD 10 code
|
G12.1 |
|
MIM number
|
181400
|
181405
|
181430
|
300695
|
|
Synonym
|
Kaeser syndrome |
Neurogenic scapuloperoneal syndrome |
Stark-Kaeser syndrome |
|
Summary
|
Under development. |
|