※ PTMD 2.0 database Online Browse Options
Browse result for Congenital myopathy
※ introduction Congenital myopathy is a very broad term for any muscle disorder present at birth. This defect primarily affects skeletal muscle fibres and causes muscular weakness and/or hypotonia. Congenital myopathies account for one of the top neuromuscular disorders in the world today, comprising approximately 6 in 100,000 live births every year. As a whole, congenital myopathies can be broadly classified as follows:
A distinctive abnormality in skeletal muscle fibres on the cellular level; observable via light microscope
Symptoms of muscle weakness and hypotonia
Is a congenital disorder, meaning it occurs during development and symptoms present themselves at birth or in early life.
Is a genetic disorder.
Reference
Wiki: Congenital myopathy
Reference
Wiki: Congenital myopathy
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD00897 | P21817 | 6261 | RYR1 | Ryanodine receptor 1 | Homo sapiens |
| PTMD01695 | P68133 | 58 | ACTA1 | Actin, alpha skeletal muscle [Cleaved into: Actin, alpha skeletal muscle, intermediate form] | Homo sapiens |
| PTMD01845 | Q8WZ42 | 7273 | TTN | Titin | Homo sapiens |
| PTMD03618 | P01112 | 3265 | HRAS | GTPase HRas [Cleaved into: GTPase HRas, N-terminally processed] | Homo sapiens |
| PTMD03666 | P02585 | 7125 | TNNC2 | Troponin C, skeletal muscle | Homo sapiens |
| PTMD03780 | P05976 | 4632 | MYL1 | Myosin light chain 1/3, skeletal muscle isoform | Homo sapiens |
| PTMD03800 | P06753 | 7170 | TPM3 | Tropomyosin alpha-3 chain | Homo sapiens |
| PTMD03853 | P07951 | 7169 | TPM2 | Tropomyosin beta chain | Homo sapiens |
| PTMD04130 | P12883 | 4625 | MYH7 | Myosin-7 | Homo sapiens |
| PTMD04931 | P35499 | 6329 | SCN4A | Sodium channel protein type 4 subunit alpha | Homo sapiens |
| PTMD06614 | Q13698 | 779 | CACNA1S | Voltage-dependent L-type calcium channel subunit alpha-1S | Homo sapiens |
| PTMD11433 | Q96KG7 | 84466 | MEGF10 | Multiple epidermal growth factor-like domains protein 10 | Homo sapiens |
| PTMD14055 | Q9UDY4 | 11080 | DNAJB4 | DnaJ homolog subfamily B member 4 | Homo sapiens |
