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Protein

Ryanodine receptor 1

Gene

RYR1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Calcium channel that mediates the release of Ca2+ from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering muscle contraction following depolarization of T-tubules (PubMed:11741831, PubMed:16163667). Repeated very high-level exercise increases the open probability of the channel and leads to Ca2+ leaking into the cytoplasm (PubMed:18268335). Can also mediate the release of Ca2+ from intracellular stores in neurons, and may thereby promote prolonged Ca2+ signaling in the brain. Required for normal embryonic development of muscle fibers and skeletal muscle. Required for normal heart morphogenesis, skin development and ossification during embryogenesis (By similarity).By similarity2 Publications1 Publication

Miscellaneous

Coexpression of normal and mutant Thr-4898 RYR1 in a 1:1 ratio produces RYR1 channels with normal halothane and caffeine sensitivities, but maximal levels of Ca2+ release are reduced by 67%. Binding of [3H]ryanodine indicates that the heterozygous channel is activated by Ca2+ concentrations 4-fold lower than normal. Single-cell analysis of cotransfected cells shows a significantly increased resting cytoplasmic Ca2+ level and a significantly reduced luminal Ca2+ level. These data indicated a leaky channel, possibly caused by a reduction in the Ca2+ concentration required for channel activation. Comparison with 2 other coexpressed mutant/normal channels suggests that the Thr-4898 mutation produces one of the most abnormal RYR1 channels that has been investigated, and this level of abnormality is reflected in the severe and penetrant phenotype of affected CCD individuals.1 Publication

Enzyme regulationi

Channel activity is modulated by the alkaloid ryanodine that binds to the open Ca-release channel with high affinity. At low concentrations, ryanodine maintains the channel in an open conformation. High ryanodine concentrations inhibit channel activity (By similarity). Channel activity is regulated by calmodulin (CALM) (PubMed:18650434). The calcium release is activated by increased cytoplasmic calcium levels, by nitric oxyde (NO), caffeine and ATP (PubMed:18268335, PubMed:16163667). Channel activity is inhibited by magnesium ions, possibly by competition for calcium binding sites (By similarity).By similarity3 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi3892CalciumBy similarity1
Metal bindingi3966CalciumBy similarity1
Binding sitei4717CaffeineBy similarity1
Metal bindingi5002Calcium; via carbonyl oxygenBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi4210 – 4214ATPBy similarity5
Nucleotide bindingi4955 – 4960ATPBy similarity6
Nucleotide bindingi4980 – 4986ATPBy similarity7

GO - Molecular functioni

  • ATP binding Source: UniProtKB
  • calcium channel activity Source: UniProtKB
  • calcium-induced calcium release activity Source: UniProtKB
  • calcium ion binding Source: UniProtKB
  • calcium-release channel activity Source: ProtInc
  • calmodulin binding Source: BHF-UCL
  • protease binding Source: Ensembl
  • ryanodine-sensitive calcium-release channel activity Source: CACAO
  • voltage-gated calcium channel activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionCalcium channel, Calmodulin-binding, Developmental protein, Ion channel, Ligand-gated ion channel, Receptor
Biological processCalcium transport, Ion transport, Transport
LigandATP-binding, Calcium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-2672351. Stimuli-sensing channels.
R-HSA-5578775. Ion homeostasis.
SIGNORiP21817.

Protein family/group databases

TCDBi1.A.3.1.2. the ryanodine-inositol 1,4,5-triphosphate receptor ca(2+) channel (rir-cac) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Ryanodine receptor 1
Short name:
RYR-1
Short name:
RyR1
Alternative name(s):
Skeletal muscle calcium release channel
Skeletal muscle ryanodine receptor
Skeletal muscle-type ryanodine receptor
Type 1 ryanodine receptor
Gene namesi
Name:RYR1
Synonyms:RYDR
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000196218.11.
HGNCiHGNC:10483. RYR1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 4559CytoplasmicBy similarityAdd BLAST4559
Transmembranei4560 – 4580Helical; Name=1By similarityAdd BLAST21
Topological domaini4581 – 4641LumenalBy similarityAdd BLAST61
Transmembranei4642 – 4662Helical; Name=2By similarityAdd BLAST21
Topological domaini4663 – 4780CytoplasmicBy similarityAdd BLAST118
Transmembranei4781 – 4803Helical; Name=3By similarityAdd BLAST23
Topological domaini4804LumenalBy similarity1
Transmembranei4805 – 4821Helical; Name=4By similarityAdd BLAST17
Topological domaini4822 – 4836CytoplasmicBy similarityAdd BLAST15
Transmembranei4837 – 4857Helical; Name=5By similarityAdd BLAST21
Topological domaini4858 – 4880LumenalBy similarityAdd BLAST23
Intramembranei4881 – 4900Pore-formingBy similarityAdd BLAST20
Topological domaini4901 – 4920LumenalBy similarityAdd BLAST20
Transmembranei4921 – 4941Helical; Name=6By similarityAdd BLAST21
Topological domaini4942 – 5038CytoplasmicBy similarityAdd BLAST97

Keywords - Cellular componenti

Membrane, Sarcoplasmic reticulum

Pathology & Biotechi

Involvement in diseasei

Malignant hyperthermia 1 (MHS1)44 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal dominant pharmacogenetic disorder of skeletal muscle and is one of the main causes of death due to anesthesia. In susceptible people, an MH episode can be triggered by all commonly used inhalational anesthetics such as halothane and by depolarizing muscle relaxants such as succinylcholine. The clinical features of the myopathy are hyperthermia, accelerated muscle metabolism, contractures, metabolic acidosis, tachycardia and death, if not treated with the postsynaptic muscle relaxant, dantrolene. Susceptibility to MH can be determined with the 'in vitro' contracture test (IVCT): observing the magnitude of contractures induced in strips of muscle tissue by caffeine alone and halothane alone. Patients with normal response are MH normal (MHN), those with abnormal response to caffeine alone or halothane alone are MH equivocal (MHE(C) and MHE(H) respectively).
See also OMIM:145600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05856013L → R in MHS1. 1 PublicationCorresponds to variant dbSNP:rs193922744Ensembl.1
Natural variantiVAR_00558935C → R in MHS1; increases calcium-induced calcium release activity. 3 PublicationsCorresponds to variant dbSNP:rs193922747Ensembl.1
Natural variantiVAR_07172140G → A in MHS1; unknown pathological significance. 1 Publication1
Natural variantiVAR_04569544R → C in CCD and MHS1. 1 PublicationCorresponds to variant dbSNP:rs193922748Ensembl.1
Natural variantiVAR_005590163R → C in CCD and MHS1; 2-3% of the cases; increases calcium-induced calcium release activity. 9 PublicationsCorresponds to variant dbSNP:rs118192161Ensembl.1
Natural variantiVAR_045697163R → L in MHS1; induces an increase sensitivity to caffeine; increases calcium-induced calcium release activity. 2 PublicationsCorresponds to variant dbSNP:rs193922753Ensembl.1
Natural variantiVAR_045698165G → R in MHS1. 1 PublicationCorresponds to variant dbSNP:rs193922754Ensembl.1
Natural variantiVAR_045699166D → N in MHS1. 2 PublicationsCorresponds to variant dbSNP:rs193922755Ensembl.1
Natural variantiVAR_045700177R → C in MHS1. 1 PublicationCorresponds to variant dbSNP:rs193922757Ensembl.1
Natural variantiVAR_045701178Y → C in MHS1. 1 Publication1
Natural variantiVAR_058561226M → K in MHS1. 1 PublicationCorresponds to variant dbSNP:rs112596687Ensembl.1
Natural variantiVAR_045703227D → V in MHS1. 1 PublicationCorresponds to variant dbSNP:rs193922760Ensembl.1
Natural variantiVAR_005591248G → R in MHS1; unknown pathological significance; increases calcium-induced calcium release activity. 6 PublicationsCorresponds to variant dbSNP:rs1801086Ensembl.1
Natural variantiVAR_045704328R → W in MHS1; has increased sensitivity to both caffeine and halothane. 2 PublicationsCorresponds to variant dbSNP:rs193922762Ensembl.1
Natural variantiVAR_005592341G → R in MHS1; 10% of the cases; increases calcium-induced calcium release activity. 6 PublicationsCorresponds to variant dbSNP:rs28933997Ensembl.1
Natural variantiVAR_058562367R → L in MHS1. 1 PublicationCorresponds to variant dbSNP:rs113332073Ensembl.1
Natural variantiVAR_068510382H → N in MHS1. 1 Publication1
Natural variantiVAR_045705401R → C in MHS1; increases calcium-induced calcium release activity. 3 PublicationsCorresponds to variant dbSNP:rs193922764Ensembl.1
Natural variantiVAR_045706401R → H in MHS1; increases calcium-induced calcium release activity. 3 PublicationsCorresponds to variant dbSNP:rs193922766Ensembl.1
Natural variantiVAR_045707401R → S in MHS1. 1 Publication1
Natural variantiVAR_005593403I → M in CCD and MHS1. 2 PublicationsCorresponds to variant dbSNP:rs118192116Ensembl.1
Natural variantiVAR_071722487L → P in MHS1; unknown pathological significance. 1 Publication1
Natural variantiVAR_071723518V → A in MHS1; unknown pathological significance. 1 Publication1
Natural variantiVAR_005595522Y → S in CCD and MHS1; increases calcium-induced calcium release activity. 3 PublicationsCorresponds to variant dbSNP:rs118192162Ensembl.1
Natural variantiVAR_058563530R → H in MHS1. 1 PublicationCorresponds to variant dbSNP:rs111888148Ensembl.1
Natural variantiVAR_045708533R → C in MHS1. 1 PublicationCorresponds to variant dbSNP:rs193922768Ensembl.1
Natural variantiVAR_008971533R → H in MHS1. Corresponds to variant dbSNP:rs144336148Ensembl.1
Natural variantiVAR_058564544D → Y in MHS1. 1 PublicationCorresponds to variant dbSNP:rs113812662Ensembl.1
Natural variantiVAR_005596552R → W in MHS1. 2 PublicationsCorresponds to variant dbSNP:rs193922770Ensembl.1
Natural variantiVAR_005597614R → C in CCD and MHS1; 3-5% of the cases; increases calcium-induced calcium release activity. 11 PublicationsCorresponds to variant dbSNP:rs28933996Ensembl.1
Natural variantiVAR_005598614R → L in MHS1; increases calcium-induced calcium release activity. 3 PublicationsCorresponds to variant dbSNP:rs193922772Ensembl.1
Natural variantiVAR_0585651043R → C in MHS1. 1 PublicationCorresponds to variant dbSNP:rs111272095Ensembl.1
Natural variantiVAR_0717271043R → H in MHS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs374776563Ensembl.1
Natural variantiVAR_0717281056D → H in MHS1. 1 Publication1
Natural variantiVAR_0717291056D → N in MHS1. 1 Publication1
Natural variantiVAR_0685111058E → K in MHS1. 1 Publication1
Natural variantiVAR_0717311127R → H in MHS1. 1 PublicationCorresponds to variant dbSNP:rs545579559Ensembl.1
Natural variantiVAR_0585661352A → G in MHS1. 1 PublicationCorresponds to variant dbSNP:rs112105381Ensembl.1
Natural variantiVAR_0685131393K → R in MHS1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs137933390Ensembl.1
Natural variantiVAR_0717321467K → R in MHS1. 1 PublicationCorresponds to variant dbSNP:rs145573319Ensembl.1
Natural variantiVAR_0717331571I → V in MHS1. 1 PublicationCorresponds to variant dbSNP:rs146429605Ensembl.1
Natural variantiVAR_0055991787P → L in MHS1. 4 PublicationsCorresponds to variant dbSNP:rs34934920Ensembl.1
Natural variantiVAR_0717342013K → Q in MHS1. 1 Publication1
Natural variantiVAR_0056002060G → C in MHS1. 6 PublicationsCorresponds to variant dbSNP:rs35364374Ensembl.1
Natural variantiVAR_0457122117V → L in MHS1. 1 PublicationCorresponds to variant dbSNP:rs193922788Ensembl.1
Natural variantiVAR_0457132129D → E in MHS1. 2 PublicationsCorresponds to variant dbSNP:rs117886618Ensembl.1
Natural variantiVAR_0056012163R → C in MHS1; increases calcium-induced calcium release activity. 4 PublicationsCorresponds to variant dbSNP:rs28933998Ensembl.1
Natural variantiVAR_0056022163R → H in CCD and MHS1; increases calcium-induced calcium release activity. 5 PublicationsCorresponds to variant dbSNP:rs28933999Ensembl.1
Natural variantiVAR_0089722163R → P in MHS1. 1 PublicationCorresponds to variant dbSNP:rs118192163Ensembl.1
Natural variantiVAR_0056032168V → M in CCD and MHS1; no difference in the thapsigargin-sensitive calcium stores of cells carrying this mutation and the wild-type; increases calcium-induced calcium release activity. 10 PublicationsCorresponds to variant dbSNP:rs118192176Ensembl.1
Natural variantiVAR_0056042206T → M in MHS1; induces an increase sensitivity to caffeine. 8 PublicationsCorresponds to variant dbSNP:rs28934000Ensembl.1
Natural variantiVAR_0089732206T → R in MHS1. 1 PublicationCorresponds to variant dbSNP:rs118192177Ensembl.1
Natural variantiVAR_0457142214V → I in MHS1. 2 PublicationsCorresponds to variant dbSNP:rs193922795Ensembl.1
Natural variantiVAR_0717362248R → H in MHS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs140152019Ensembl.1
Natural variantiVAR_0457152280V → I in MHS1. 1 PublicationCorresponds to variant dbSNP:rs193922797Ensembl.1
Natural variantiVAR_0585682336R → H in MHS1. 1 PublicationCorresponds to variant dbSNP:rs112563513Ensembl.1
Natural variantiVAR_0457162342N → S in MHS1. 1 PublicationCorresponds to variant dbSNP:rs147213895Ensembl.1
Natural variantiVAR_0457172344E → D in MHS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs193922798Ensembl.1
Natural variantiVAR_0457182346V → M in MHS1. 2 PublicationsCorresponds to variant dbSNP:rs193922799Ensembl.1
Natural variantiVAR_0457192347Missing in MHS1. 1 Publication1
Natural variantiVAR_0457202348E → G in MHS1. 1 PublicationCorresponds to variant dbSNP:rs193922801Ensembl.1
Natural variantiVAR_0457212350A → T in MHS1; reveals an altered calcium dependence and increased caffeine sensitivity; increases calcium-induced calcium release activity. 4 PublicationsCorresponds to variant dbSNP:rs193922802Ensembl.1
Natural variantiVAR_0717382351N → H in MHS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs376176332Ensembl.1
Natural variantiVAR_0717392354V → M in MHS1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0457222355R → C in MHS1. 1 Publication1
Natural variantiVAR_0717402358I → L in MHS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs759306349Ensembl.1
Natural variantiVAR_0457232367A → T in MHS1. 2 PublicationsCorresponds to variant dbSNP:rs146306934Ensembl.1
Natural variantiVAR_0717412383A → Q in MHS1; requires 2 nucleotide substitutions; unknown pathological significance. 1 Publication1
Natural variantiVAR_0717422400D → G in MHS1. 1 Publication1
Natural variantiVAR_0585692404E → K in MHS1. 1 PublicationCorresponds to variant dbSNP:rs111364296Ensembl.1
Natural variantiVAR_0457252428A → T in MHS1; induces an increase sensitivity to caffeine. 2 PublicationsCorresponds to variant dbSNP:rs193922809Ensembl.1
Natural variantiVAR_0457262431D → N in MHS1. 2 PublicationsCorresponds to variant dbSNP:rs193922810Ensembl.1
Natural variantiVAR_0056052434G → R in MHS1; increases calcium-induced calcium release activity. 9 PublicationsCorresponds to variant dbSNP:rs121918593Ensembl.1
Natural variantiVAR_0056062435R → H in CCD and MHS1; increases calcium-induced calcium release activity. 4 PublicationsCorresponds to variant dbSNP:rs28933396Ensembl.1
Natural variantiVAR_0089742435R → L in MHS1. 3 PublicationsCorresponds to variant dbSNP:rs28933396Ensembl.1
Natural variantiVAR_0457272437A → V in MHS1. 1 PublicationCorresponds to variant dbSNP:rs193922812Ensembl.1
Natural variantiVAR_0457282452R → W in MHS1. 3 PublicationsCorresponds to variant dbSNP:rs118192124Ensembl.1
Natural variantiVAR_0089752454R → C in MHS1; induces an increase sensitivity to caffeine; increases calcium-induced calcium release activity. 4 PublicationsCorresponds to variant dbSNP:rs193922816Ensembl.1
Natural variantiVAR_0089762454R → H in MHS1; severe form; increases calcium-induced calcium release activity. 9 PublicationsCorresponds to variant dbSNP:rs118192122Ensembl.1
Natural variantiVAR_0089772458R → C in MHS1. 4 PublicationsCorresponds to variant dbSNP:rs28933397Ensembl.1
Natural variantiVAR_0089782458R → H in MHS1. 3 PublicationsCorresponds to variant dbSNP:rs121918594Ensembl.1
Natural variantiVAR_0753992508R → C in MHS1 and CCD; increases sensitivity to caffeine and 4-chloro-m-cresol; decreases protein abundance; increases calcium-induced calcium release activity. 3 PublicationsCorresponds to variant dbSNP:rs118192178Ensembl.1
Natural variantiVAR_0776832508R → H in MHS1; increases sensitivity to caffeine and 4-chloro-m-cresol; decreases protein abundance; increases calcium-induced calcium release activity. 2 PublicationsCorresponds to variant dbSNP:rs193922818Ensembl.1
Natural variantiVAR_0717432593R → G in MHS1. 1 Publication1
Natural variantiVAR_0717442627V → M in MHS1. 1 Publication1
Natural variantiVAR_0457292676R → W in MHS1; located on the same allele as S-2787. 3 PublicationsCorresponds to variant dbSNP:rs28934001Ensembl.1
Natural variantiVAR_0585712730D → G in MHS1. 1 PublicationCorresponds to variant dbSNP:rs112196644Ensembl.1
Natural variantiVAR_0457302787T → S in MHS1; located on the same allele as W-2676. 3 PublicationsCorresponds to variant dbSNP:rs35180584Ensembl.1
Natural variantiVAR_0585722880E → K in MHS1. 1 PublicationCorresponds to variant dbSNP:rs112772310Ensembl.1
Natural variantiVAR_0585733217S → P in MHS1. 1 PublicationCorresponds to variant dbSNP:rs113422327Ensembl.1
Natural variantiVAR_0585743290E → K in MHS1. 1 PublicationCorresponds to variant dbSNP:rs112151058Ensembl.1
Natural variantiVAR_0717483410P → Q in MHS1. 1 Publication1
Natural variantiVAR_0717493501D → Y in MHS1. 1 PublicationCorresponds to variant dbSNP:rs763259167Ensembl.1
Natural variantiVAR_0717503711T → R in MHS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs375915752Ensembl.1
Natural variantiVAR_0585763772R → W in MHS1. 1 PublicationCorresponds to variant dbSNP:rs763112609Ensembl.1
Natural variantiVAR_0585773806G → R in MHS1. 1 PublicationCorresponds to variant dbSNP:rs111565359Ensembl.1
Natural variantiVAR_0457353916I → M in MHS1. 2 PublicationsCorresponds to variant dbSNP:rs193922840Ensembl.1
Natural variantiVAR_0685183933Y → C in CCD and MHS1. 2 PublicationsCorresponds to variant dbSNP:rs147136339Ensembl.1
Natural variantiVAR_0457364136R → S in MHS1. 1 PublicationCorresponds to variant dbSNP:rs193922849Ensembl.1
Natural variantiVAR_0717514178G → V in MHS1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0717524230M → R in MHS1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0457384234V → L in MHS1. 2 PublicationsCorresponds to variant dbSNP:rs193922852Ensembl.1
Natural variantiVAR_0585784501P → L in MHS1. 1 PublicationCorresponds to variant dbSNP:rs73933023Ensembl.1
Natural variantiVAR_0457474684F → S in MHS1. 1 PublicationCorresponds to variant dbSNP:rs193922864Ensembl.1
Natural variantiVAR_0457494737R → Q in MHS1. 1 PublicationCorresponds to variant dbSNP:rs193922868Ensembl.1
Natural variantiVAR_0457504737R → W in MHS1; unknown pathological significance; slightly increases Ca(2+) release in response to 4-chloro-m-cresol. 3 PublicationsCorresponds to variant dbSNP:rs193922867Ensembl.1
Natural variantiVAR_0457544824L → P in MHS1. 2 PublicationsCorresponds to variant dbSNP:rs193922874Ensembl.1
Natural variantiVAR_0457564826T → I in MHS1. 2 PublicationsCorresponds to variant dbSNP:rs121918595Ensembl.1
Natural variantiVAR_0717534837Q → E in MHS1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0457574838L → V in MHS1. 3 PublicationsCorresponds to variant dbSNP:rs193922878Ensembl.1
Natural variantiVAR_0457604849V → I in MHS1 and CCD; autosomal recessive form. 4 PublicationsCorresponds to variant dbSNP:rs118192168Ensembl.1
Natural variantiVAR_0457634861R → H in CCD and MHS1; release of calcium from intracellular stores in the absence of any pharmacological activator of RYR. 8 PublicationsCorresponds to variant dbSNP:rs63749869Ensembl.1
Natural variantiVAR_0457664876K → R in MHS1. 2 PublicationsCorresponds to variant dbSNP:rs113210953Ensembl.1
Natural variantiVAR_0717554906A → G in MHS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs118192153Ensembl.1
Natural variantiVAR_0585794938I → T in MHS1. 1 PublicationCorresponds to variant dbSNP:rs111657878Ensembl.1
Natural variantiVAR_0457794939D → E in MHS1. 2 PublicationsCorresponds to variant dbSNP:rs193922895Ensembl.1
Natural variantiVAR_0457814942G → V in MHS1. 1 PublicationCorresponds to variant dbSNP:rs193922896Ensembl.1
Natural variantiVAR_0457824973P → L in MHS1. 3 PublicationsCorresponds to variant dbSNP:rs146876145Ensembl.1
Central core disease of muscle (CCD)26 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal dominant congenital myopathy, but a severe autosomal recessive form also exists. Both clinical and histological variability is observed. Affected individuals typically display hypotonia and proximal muscle weakness in infancy, leading to the delay of motor milestones. The clinical course of the disorder is usually slow or nonprogressive in adulthood, and the severity of the symptoms may vary from normal to significant muscle weakness. Microscopic examination of CCD-affected skeletal muscle reveals a predominance of type I fibers containing amorphous-looking areas (cores) that do not stain with oxidative and phosphorylase histochemical techniques.
See also OMIM:117000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04569413L → V in CCD; autosomal recessive form. 1 Publication