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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



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD00897P218176261
RYR1
Ryanodine receptor 1
Homo sapiens
PTMD01695P6813358
ACTA1
Actin, alpha skeletal muscle [Cleaved into: Actin, alpha skeletal muscle, intermediate form]
Homo sapiens
PTMD01845Q8WZ427273
TTN
Titin
Homo sapiens
PTMD03618P011123265
HRAS
GTPase HRas [Cleaved into: GTPase HRas, N-terminally processed]
Homo sapiens
PTMD03666P025857125
TNNC2
Troponin C, skeletal muscle
Homo sapiens
PTMD03780P059764632
MYL1
Myosin light chain 1/3, skeletal muscle isoform
Homo sapiens
PTMD03800P067537170
TPM3
Tropomyosin alpha-3 chain
Homo sapiens
PTMD03853P079517169
TPM2
Tropomyosin beta chain
Homo sapiens
PTMD04130P128834625
MYH7
Myosin-7
Homo sapiens
PTMD04931P354996329
SCN4A
Sodium channel protein type 4 subunit alpha
Homo sapiens
PTMD06614Q13698779
CACNA1S
Voltage-dependent L-type calcium channel subunit alpha-1S
Homo sapiens
PTMD11433Q96KG784466
MEGF10
Multiple epidermal growth factor-like domains protein 10
Homo sapiens
PTMD14055Q9UDY411080
DNAJB4
DnaJ homolog subfamily B member 4
Homo sapiens