Disorders
Distal Congenital Nonprogressive Spinal Muscular Atrophy
Synonym(s): Congenital Benign Spinal Muscular Atrophy with Contractures
| Gene | Locus | Protein |
|---|---|---|
| TRPV4 | 12q24.1 | Transient receptor potential cation channel subfamily V member 4 |
Synonym(s): Congenital Benign Spinal Muscular Atrophy with Contractures
| Gene | Locus | Protein |
|---|---|---|
| TRPV4 | 12q24.1 | Transient receptor potential cation channel subfamily V member 4 |