qualitative or quantitative protein defects in neuromuscular diseases
MONDO:0016139Mondo
Findings
No curated finding names qualitative or quantitative protein defects in neuromuscular diseases yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Where it sits
- A kind of
- Narrower terms (19)
- alpha-actinopathy
- caveolinopathy
- collagen 6-related myopathy
- neuromuscular disease caused by qualitative or quantitative defects of alpha-actin
- neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan
- neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
- neuromuscular disease caused by qualitative or quantitative defects of dysferlin
- neuromuscular disease caused by qualitative or quantitative defects of dystrophin
- neuromuscular disease caused by qualitative or quantitative defects of myofibrillar proteins
- neuromuscular disease caused by qualitative or quantitative defects of nebulin
- neuromuscular disease caused by qualitative or quantitative defects of perlecan
- neuromuscular disease caused by qualitative or quantitative defects of plectin
- neuromuscular disease caused by qualitative or quantitative defects of protein SERCA1
- neuromuscular disease caused by qualitative or quantitative defects of selenoprotein N1
- neuromuscular disease caused by qualitative or quantitative defects of telethonin
- neuromuscular disease caused by qualitative or quantitative defects of titin
- neuromuscular disease caused by qualitative or quantitative defects of TRIM32
- neuromuscular disease caused by qualitative or quantitative defects of tropomyosin
- sarcoglycanopathy