SMAPME
MCID: SPN252
MIFTS: 45

Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMAPME)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

MalaCards integrated aliases for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy:

Name: Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy 56 12 74 52 25 73 13 15
Jankovic-Rivera Syndrome 12 74 52 25 58
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome 52 58 29 6
Sma-Pme 12 52 25 58
Smapme 56 12 25 73
Hereditary Myoclonus-Progressive Distal Muscular Atrophy Syndrome 12 52 58
Hereditary Myoclonus with Progressive Distal Muscular Atrophy 25 73
Jankovic Rivera Syndrome 43 71
Myoclonus, Hereditary, with Progressive Distal Muscular Atrophy 56
Atrophy, Muscular, Spinal, with Progressive Myoclonic Epilepsy 39
Myoclonus Hereditary Progressive Distal Muscular Atrophy 52

Characteristics:

Orphanet epidemiological data:

58
spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset of muscle weakness around age 5 years
onset of seizures around 7 to 12 years
seizures are sensitive to hyperventilation


HPO:

31
spinal muscular atrophy with progressive myoclonic epilepsy:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

Genetics Home Reference : 25 Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a neurological condition that causes muscle weakness and wasting (atrophy) and a combination of seizures and uncontrollable muscle jerks (myoclonic epilepsy). In individuals with SMA-PME, spinal muscular atrophy results from a loss of specialized nerve cells, called motor neurons, in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). After a few years of normal development, affected children begin experiencing muscle weakness and atrophy in the lower limbs, causing difficulty walking and frequent falls. The muscles in the upper limbs are later affected, and soon the muscle weakness and atrophy spreads throughout the body. Once weakness reaches the muscles used for breathing and swallowing, it leads to life-threatening breathing problems and increased susceptibility to pneumonia. A few years after the muscle weakness begins, affected individuals start to experience recurrent seizures (epilepsy). Most people with SMA-PME have a variety of seizure types. In addition to myoclonic epilepsy, they may have generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Affected individuals can also have absence seizures, which cause loss of consciousness for a short period that may or may not be accompanied by muscle jerks. In SMA-PME, seizures often increase in frequency over time and are usually not well-controlled with medication. Individuals with SMA-PME may also have episodes of rhythmic shaking (tremors), usually in the hands; these tremors are not thought to be related to epilepsy. Some people with SMA-PME develop hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss). Individuals with SMA-PME have a shortened lifespan; they generally live into late childhood or early adulthood. The cause of death is often respiratory failure or pneumonia.

MalaCards based summary : Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy, also known as jankovic-rivera syndrome, is related to spinal muscular atrophy and lipogranulomatosis, and has symptoms including seizures, myoclonus and tremor. An important gene associated with Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy is ASAH1 (N-Acylsphingosine Amidohydrolase 1), and among its related pathways/superpathways are Metabolism and Sphingolipid metabolism. Affiliated tissues include brain, spinal cord and skin, and related phenotypes are neurological speech impairment and gait disturbance

Disease Ontology : 12 A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has material basis in homozygous or compound heterozygous mutation in ASAH1 on chromosome 8p22.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2590 Definition Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus. Visit the Orphanet disease page for more resources.

OMIM : 56 Spinal muscular atrophy with progressive myoclonic epilepsy is an autosomal recessive neuromuscular disorder characterized by childhood onset of proximal muscle weakness and generalized muscular atrophy due to degeneration of spinal motor neurons, followed by the onset of myoclonic seizures. The disorder is progressive, and usually results in loss of ambulation and early death from respiratory insufficiency (summary by Zhou et al., 2012). (159950)

UniProtKB/Swiss-Prot : 73 Spinal muscular atrophy with progressive myoclonic epilepsy: An autosomal recessive neuromuscular disorder characterized by childhood onset of motor deficits and progressive myoclonic seizures, after normal developmental milestones. Proximal muscle weakness and generalized muscular atrophy are due to degeneration of spinal motor neurons. Myoclonic epilepsy is generally resistant to conventional therapy. The disease course is progressive and leads to respiratory muscle involvement and severe handicap or early death from respiratory insufficiency.

Wikipedia : 74 Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), sometimes called Jankovic-Rivera... more...

Related Diseases for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

Diseases related to Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 36, show less)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy 32.3 SMN2 SMN1 KDSR ASAH1
2 lipogranulomatosis 30.9 ASAH2 ASAH1
3 muscular atrophy 30.6 SMN2 SMN1 KDSR ASAH1
4 farber lipogranulomatosis 29.5 SMPD1 RBM14-RBM4 CERS1 ASAH2 ASAH1 ACER3
5 myoclonic epilepsy of unverricht and lundborg 10.7
6 early myoclonic encephalopathy 10.7
7 motor neuron disease 10.5
8 asah1-related disorders 10.5
9 tremor 10.5
10 epilepsy 10.5
11 sensorineural hearing loss 10.4
12 status epilepticus 10.2
13 lysosomal storage disease 10.2
14 hypotonia 10.2
15 nephrolithiasis/osteoporosis, hypophosphatemic, 2 10.2 SMN2 SMN1
16 proximal spinal muscular atrophy 10.2 SMN2 SMN1
17 autosomal recessive distal hereditary motor neuronopathy 10.2 SMN2 SMN1
18 anterior horn cell disease 10.2 SMN2 SMN1
19 amelogenesis imperfecta, type ia 10.1 SMN2 SMN1
20 spinal muscular atrophy, distal, autosomal recessive, 1 10.1 SMN2 SMN1
21 dubowitz syndrome 10.1 SMN2 SMN1
22 progressive muscular atrophy 10.1 SMN2 SMN1
23 niemann-pick disease, type a 10.1 SMPD1 ASAH2
24 childhood spinal muscular atrophy 10.0 SMN2 SMN1
25 sphingolipidosis 10.0 SMPD1 ASAH2 ASAH1
26 spinal muscular atrophy, type iv 10.0 SMN2 SMN1
27 neuropathy, hereditary sensory and autonomic, type iii 10.0 SMN2 SMN1
28 sandhoff disease 9.9 SMPD1 ASAH1
29 unverricht-lundborg syndrome 9.7 KCTD7 GOSR2
30 aggressive systemic mastocytosis 9.7 SMPD1 CERS1 ASAH2 ASAH1
31 nephrotic syndrome, type 14 9.7 SMPD1 KDSR ASAH1 ACER3
32 hereditary sensory and autonomic neuropathy type 1 9.7 KDSR ACER3
33 tay-sachs disease 9.6 SMPD1 SMN2 NEU3 ASAH1
34 gm2 gangliosidosis 9.6 SMPD1 SMN1 NEU3 ASAH1
35 myoclonus 9.5 KCTD7 GOSR2 CERS1
36 progressive myoclonus epilepsy 9.5 KCTD7 GOSR2 CERS1

Graphical network of the top 20 diseases related to Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy:



Diseases related to Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

Symptoms & Phenotypes for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

Human phenotypes related to Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy:

31 58 (showing 48, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurological speech impairment 31 hallmark (90%) HP:0002167
2 gait disturbance 31 hallmark (90%) HP:0001288
3 emg abnormality 31 hallmark (90%) HP:0003457
4 progressive distal muscular atrophy 31 hallmark (90%) HP:0008955
5 generalized myoclonic seizure 31 hallmark (90%) HP:0002123
6 eeg abnormality 31 frequent (33%) HP:0002353
7 dementia 31 frequent (33%) HP:0000726
8 scoliosis 58 31 Occasional (29-5%) HP:0002650
9 respiratory insufficiency due to muscle weakness 58 31 Frequent (79-30%) HP:0002747
10 myoclonus 58 31 Very frequent (99-80%) HP:0001336
11 tremor 58 31 Frequent (79-30%) HP:0001337
12 frequent falls 58 31 Frequent (79-30%) HP:0002359
13 difficulty walking 58 31 Frequent (79-30%) HP:0002355
14 intellectual disability 58 Very rare (<4-1%)
15 behavioral abnormality 58 Frequent (79-30%)
16 recurrent respiratory infections 31 HP:0002205
17 seizures 58 Obligate (100%)
18 sensorineural hearing impairment 58 Occasional (29-5%)
19 flexion contracture 58 Excluded (0%)
20 dysphagia 58 Very rare (<4-1%)
21 generalized myoclonic seizures 58 Frequent (79-30%)
22 waddling gait 58 Occasional (29-5%)
23 facial palsy 31 HP:0010628
24 areflexia 31 HP:0001284
25 hoarse voice 58 Excluded (0%)
26 mental deterioration 58 Occasional (29-5%)
27 respiratory failure 58 Occasional (29-5%)
28 clumsiness 58 Frequent (79-30%)
29 generalized tonic-clonic seizures without focal onset 58 Occasional (29-5%)
30 hepatosplenomegaly 58 Excluded (0%)
31 recurrent aspiration pneumonia 58 Frequent (79-30%)
32 functional motor deficit 58 Very frequent (99-80%)
33 oral-pharyngeal dysphagia 31 HP:0200136
34 inability to walk 58 Occasional (29-5%)
35 skin nodule 58 Excluded (0%)
36 abnormal enzyme/coenzyme activity 58 Very frequent (99-80%)
37 degeneration of anterior horn cells 31 HP:0002398
38 lower limb muscle weakness 58 Very frequent (99-80%)
39 gowers sign 31 HP:0003391
40 abnormal lower motor neuron morphology 58 Very frequent (99-80%)
41 atonic seizure 58 Frequent (79-30%)
42 tongue fasciculations 31 HP:0001308
43 high-frequency sensorineural hearing impairment 58 Occasional (29-5%)
44 limb myoclonus 58 Occasional (29-5%)
45 spinal muscular atrophy 31 HP:0007269
46 typical absence seizure 58 Frequent (79-30%)
47 eyelid myoclonus 58 Occasional (29-5%)
48 myoclonic status epilepticus 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis

Neurologic Central Nervous System:
seizures
tremor
frequent falls
difficulty walking
myoclonic seizures
more
Muscle Soft Tissue:
fasciculations
gowers sign
muscle atrophy
muscle weakness, proximal
emg shows chronic denervation
more
Head And Neck Face:
facial weakness

Laboratory Abnormalities:
normal serum creatine kinase

Respiratory:
recurrent respiratory infections
respiratory insufficiency due to muscle weakness

Neurologic Peripheral Nervous System:
areflexia

Head And Neck Mouth:
tongue fasciculations

Abdomen Gastrointestinal:
difficulty swallowing

Clinical features from OMIM:

159950

UMLS symptoms related to Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy:


seizures, myoclonus, tremor, muscular fasciculation, myoclonic seizures, facial paresis

Drugs & Therapeutics for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

Search Clinical Trials , NIH Clinical Center for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

Cochrane evidence based reviews: jankovic rivera syndrome

Genetic Tests for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

Genetic tests related to Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy:

# Genetic test Affiliating Genes
1 Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome 29 ASAH1

Anatomical Context for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

MalaCards organs/tissues related to Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy:

40
Brain, Spinal Cord, Skin, Tongue

Publications for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

Articles related to Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy:

(showing 16, show less)
# Title Authors PMID Year
1
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. 61 56 6
24164096 2014
2
Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. 6 56
22703880 2012
3
ASAH1-Related Disorders 61 6
29595935 2018
4
Spinal muscular atrophy with progressive myoclonic epilepsy: report of new cases and review of the literature. 56 61
12571787 2002
5
Hereditary myoclonus and progressive distal muscular atrophy. 56
534421 1979
6
ASAH1 pathogenic variants associated with acid ceramidase deficiency (ACD): Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). 61
32449975 2020
7
Zebrafish acid ceramidase: Expression in Pichia pastoris GS115and biochemical characterization. 61
30399382 2019
8
A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran. 61
31213928 2019
9
A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran [Corrigendum]. 61
31372065 2019
10
Acid ceramidase deficiency: Farber disease and SMA-PME. 61
30029679 2018
11
Structural basis for the activation of acid ceramidase. 61
29692406 2018
12
Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1. 61
29169047 2018
13
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy. 61
28251733 2017
14
Eyelid myoclonic status epilepticus: A rare phenotype in spinal muscular atrophy with progressive myoclonic epilepsy associated with ASAH1 gene mutation. 61
27723502 2016
15
Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy. 61
26526000 2015
16
Uniparental disomy as a cause of spinal muscular atrophy and progressive myoclonic epilepsy: phenotypic homogeneity due to the homozygous c.125C>T mutation in ASAH1. 61
25578555 2015

Variations for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

ClinVar genetic disease variations for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy:

6 (showing 16, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ASAH1 NM_177924.5(ASAH1):c.886C>T (p.Arg296Ter)SNV Pathogenic 812508 8:17917112-17917112 8:18059603-18059603
2 ASAH1 NM_177924.5(ASAH1):c.594_599dup (p.Lys200_Ala201insAsnPhe)duplication Pathogenic 812481 8:17919836-17919837 8:18062327-18062328
3 ASAH1 NM_177924.5(ASAH1):c.518A>T (p.Asn173Ile)SNV Pathogenic 812480 8:17919918-17919918 8:18062409-18062409
4 ASAH1 NM_177924.5(ASAH1):c.223_224insC (p.Val75fs)insertion Pathogenic 812500 8:17927380-17927381 8:18069871-18069872
5 ASAH1 NM_177924.5(ASAH1):c.77C>G (p.Pro26Arg)SNV Pathogenic 812482 8:17941491-17941491 8:18083982-18083982
6 ASAH1 NC_000008.11:g.(?_18051554)_(18107050_?)deldeletion Pathogenic 35545 8:17909063-17964559 8:18051554-18107050
7 ASAH1 NM_177924.5(ASAH1):c.850G>T (p.Gly284Ter)SNV Pathogenic 180642 rs794729663 8:17917148-17917148 8:18059639-18059639
8 ASAH1 NM_177924.5(ASAH1):c.410A>G (p.Tyr137Cys)SNV Pathogenic 375548 rs371666412 8:17922013-17922013 8:18064504-18064504
9 ASAH1 NM_177924.5(ASAH1):c.125+1G>ASNV Pathogenic/Likely pathogenic 662497 8:17933049-17933049 8:18075540-18075540
10 ASAH1 NM_177924.5(ASAH1):c.125C>T (p.Thr42Met)SNV Pathogenic/Likely pathogenic 35544 rs145873635 8:17933050-17933050 8:18075541-18075541
11 ASAH1 NM_177924.5(ASAH1):c.456A>C (p.Lys152Asn)SNV Pathogenic/Likely pathogenic 180643 rs200455852 8:17921967-17921967 8:18064458-18064458
12 ASAH1 NM_177924.5(ASAH1):c.118G>C (p.Gly40Arg)SNV Likely pathogenic 873542 8:17933057-17933057 8:18075548-18075548
13 ASAH1 NM_177924.5(ASAH1):c.177C>G (p.Tyr59Ter)SNV Likely pathogenic 812470 8:17928848-17928848 8:18071339-18071339
14 ASAH1 NM_177924.5(ASAH1):c.536C>T (p.Thr179Ile)SNV Conflicting interpretations of pathogenicity 560956 rs766257867 8:17919900-17919900 8:18062391-18062391
15 ASAH1 NM_177924.5(ASAH1):c.124A>G (p.Thr42Ala)SNV Uncertain significance 560955 rs779888892 8:17933051-17933051 8:18075542-18075542
16 ASAH1 NM_177924.5(ASAH1):c.620A>T (p.Tyr207Phe)SNV Uncertain significance 362377 rs150268016 8:17919816-17919816 8:18062307-18062307

UniProtKB/Swiss-Prot genetic disease variations for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy:

73 (showing 2, show less)
# Symbol AA change Variation ID SNP ID
1 ASAH1 p.Thr42Met VAR_068722 rs145873635
2 ASAH1 p.Lys152Asn VAR_072247 rs200455852

Expression for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

Search GEO for disease gene expression data for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy.

Pathways for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

Pathways related to Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy according to GeneCards Suite gene sharing:

(showing 5, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.61 SMPD1 NEU3 KDSR CERS1 B4GALT6 B3GALT4
2
Show member pathways
11.68 SMPD1 NEU3 KDSR CERS1 B4GALT6 ASAH2
3 11.48 SMPD1 ASAH2 ASAH1
4 11.43 SMPD1 CERS1 ASAH2 ASAH1 ACER2
5 10.29 ASAH2 ASAH1 ACER2

GO Terms for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

Cellular components related to Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy according to GeneCards Suite gene sharing:

(showing 6, show less)
# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.85 KDSR GOSR2 CERS1 B3GALT4 ASAH1 ACER3
2 Golgi apparatus GO:0005794 9.8 GOSR2 B4GALT6 B3GALT4 ASAH2 ACER3 ACER2
3 SMN-Sm protein complex GO:0034719 9.26 SMN2 SMN1
4 Gemini of coiled bodies GO:0097504 9.16 SMN2 SMN1
5 Golgi membrane GO:0000139 9.1 GOSR2 B4GALT6 B3GALT4 ASAH2 ACER3 ACER2
6 SMN complex GO:0032797 8.96 SMN2 SMN1

Biological processes related to Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy according to GeneCards Suite gene sharing:

(showing 12, show less)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.86 NEU3 KDSR CERS1 B4GALT6 ASAH2 ASAH1
2 sphingolipid biosynthetic process GO:0030148 9.71 KDSR CERS1 ACER3 ACER2
3 ceramide biosynthetic process GO:0046513 9.67 SMPD1 CERS1 ASAH2 ASAH1
4 ceramide metabolic process GO:0006672 9.62 SMPD1 ASAH2 ACER3 ACER2
5 glycosphingolipid metabolic process GO:0006687 9.61 SMPD1 NEU3 ASAH1
6 spliceosomal snRNP assembly GO:0000387 9.51 SMN2 SMN1
7 spliceosomal complex assembly GO:0000245 9.49 SMN2 SMN1
8 import into nucleus GO:0051170 9.48 SMN2 SMN1
9 DNA-templated transcription, termination GO:0006353 9.46 SMN2 SMN1
10 sphingosine biosynthetic process GO:0046512 9.46 ASAH2 ASAH1 ACER3 ACER2
11 ceramide catabolic process GO:0046514 9.26 ASAH2 ASAH1 ACER3 ACER2
12 sphingolipid metabolic process GO:0006665 9.17 KDSR CERS1 B4GALT6 ASAH2 ASAH1 ACER3

Molecular functions related to Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy according to GeneCards Suite gene sharing:

(showing 6, show less)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides GO:0016811 9.43 ASAH1 ACER3 ACER2
2 galactosyltransferase activity GO:0008378 9.37 B4GALT6 B3GALT4
3 dihydroceramidase activity GO:0071633 9.33 ASAH2 ACER3 ACER2
4 phytoceramidase activity GO:0070774 9.32 ASAH2 ACER3
5 N-acylsphingosine amidohydrolase activity GO:0017040 9.26 ASAH2 ASAH1 ACER3 ACER2
6 ceramidase activity GO:0102121 8.92 ASAH2 ASAH1 ACER3 ACER2

Sources for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

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17 EFO
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33 ICD10 via Orphanet
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35 IUPHAR
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