SMAJ
MCID: SPN267
MIFTS: 32

Spinal Muscular Atrophy, Jokela Type (SMAJ)

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

Aliases & Classifications for Spinal Muscular Atrophy, Jokela Type

MalaCards integrated aliases for Spinal Muscular Atrophy, Jokela Type:

Name: Spinal Muscular Atrophy, Jokela Type 57 58 72 29 13 6 70
Smaj 57 58 72
Lower Motor Neuron Syndrome with Late-Adult Onset 58
Atrophy, Muscular, Spinal, Jokela Type 39
Late-Onset Spinal Motor Neuronopathy 58
Losmon 58

Characteristics:

Orphanet epidemiological data:

58
lower motor neuron syndrome with late-adult onset
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
patients remain ambulatory
onset in mid-adulthood
increased prevalence among the finnish


HPO:

31
spinal muscular atrophy, jokela type:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 615048
MeSH 44 D009134
ICD10 via Orphanet 33 G12.1
Orphanet 58 ORPHA276435
UMLS 70 C3554398

Summaries for Spinal Muscular Atrophy, Jokela Type

OMIM® : 57 The Jokela type of spinal muscular atrophy (SMAJ) is an autosomal dominant lower motor neuron disorder characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs. The disorder is slowly progressive, resulting in weakness and mild muscle atrophy later in life (summary by Jokela et al., 2011). (615048) (Updated 20-May-2021)

MalaCards based summary : Spinal Muscular Atrophy, Jokela Type, also known as smaj, is related to motor neuron disease and amyotrophic lateral sclerosis 1, and has symptoms including muscular fasciculation An important gene associated with Spinal Muscular Atrophy, Jokela Type is CHCHD10 (Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 10). Affiliated tissues include skeletal muscle and tongue, and related phenotypes are tremor and calf muscle hypertrophy

UniProtKB/Swiss-Prot : 72 Spinal muscular atrophy, Jokela type: An autosomal dominant, slowly progressive, lower motor neuron disease. SMAJ is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs. The disorder results in weakness and mild muscle atrophy later in life.

Related Diseases for Spinal Muscular Atrophy, Jokela Type

Diseases related to Spinal Muscular Atrophy, Jokela Type via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 5, show less)
# Related Disease Score Top Affiliating Genes
1 motor neuron disease 10.3
2 amyotrophic lateral sclerosis 1 10.2
3 frontotemporal dementia 10.2
4 lateral sclerosis 10.2
5 chchd10-related disorders 10.2

Graphical network of the top 20 diseases related to Spinal Muscular Atrophy, Jokela Type:



Diseases related to Spinal Muscular Atrophy, Jokela Type

Symptoms & Phenotypes for Spinal Muscular Atrophy, Jokela Type

Human phenotypes related to Spinal Muscular Atrophy, Jokela Type:

58 31 (showing 36, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
2 calf muscle hypertrophy 31 occasional (7.5%) HP:0008981
3 distal sensory impairment 31 occasional (7.5%) HP:0002936
4 elevated serum creatine kinase 58 31 Frequent (79-30%) HP:0003236
5 areflexia 58 31 Frequent (79-30%) HP:0001284
6 fasciculations 58 31 Frequent (79-30%) HP:0002380
7 hyporeflexia 58 31 Frequent (79-30%) HP:0001265
8 gait disturbance 58 Frequent (79-30%)
9 dysphagia 58 Occasional (29-5%)
10 muscle weakness 31 HP:0001324
11 pes planus 31 HP:0001763
12 skeletal muscle atrophy 31 HP:0003202
13 emg: myopathic abnormalities 58 Occasional (29-5%)
14 rimmed vacuoles 58 Occasional (29-5%)
15 proximal muscle weakness in lower limbs 58 Frequent (79-30%)
16 proximal muscle weakness in upper limbs 58 Occasional (29-5%)
17 ragged-red muscle fibers 58 Occasional (29-5%)
18 bulbar signs 58 Very rare (<4-1%)
19 pes cavus 31 HP:0001761
20 abnormality of the respiratory system 58 Very rare (<4-1%)
21 upper motor neuron dysfunction 58 Excluded (0%)
22 distal lower limb muscle weakness 58 Very frequent (99-80%)
23 hammertoe 31 HP:0001765
24 difficulty walking 31 HP:0002355
25 inability to walk 58 Very rare (<4-1%)
26 intrinsic hand muscle atrophy 58 Occasional (29-5%)
27 muscle spasm 31 HP:0003394
28 emg: neuropathic changes 58 Frequent (79-30%)
29 tongue fasciculations 58 Occasional (29-5%)
30 impaired distal vibration sensation 58 Occasional (29-5%)
31 abnormal sensory nerve conduction velocity 58 Occasional (29-5%)
32 exercise-induced muscle cramps 58 Frequent (79-30%)
33 spinal muscular atrophy 31 HP:0007269
34 cold-induced muscle cramps 58 Frequent (79-30%)
35 increased intramuscular fat 58 Frequent (79-30%)
36 gastrocnemius myalgia 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Feet:
pes planus
pes cavus
hammertoes

Muscle Soft Tissue:
fasciculations
calf hypertrophy (in some patients)
neurogenic changes seen on emg
painful muscle cramps
muscle weakness, proximal and distal, affecting upper and lower limbs
more
Laboratory Abnormalities:
increased serum creatine kinase

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment, mild (in some patients)

Neurologic Central Nervous System:
difficulty walking
tremor (in some patients)
lower motor neuron disease affecting upper and lower limbs

Clinical features from OMIM®:

615048 (Updated 20-May-2021)

UMLS symptoms related to Spinal Muscular Atrophy, Jokela Type:


muscular fasciculation

Drugs & Therapeutics for Spinal Muscular Atrophy, Jokela Type

Search Clinical Trials , NIH Clinical Center for Spinal Muscular Atrophy, Jokela Type

Genetic Tests for Spinal Muscular Atrophy, Jokela Type

Genetic tests related to Spinal Muscular Atrophy, Jokela Type:

# Genetic test Affiliating Genes
1 Spinal Muscular Atrophy, Jokela Type 29 CHCHD10

Anatomical Context for Spinal Muscular Atrophy, Jokela Type

MalaCards organs/tissues related to Spinal Muscular Atrophy, Jokela Type:

40
Skeletal Muscle, Tongue

Publications for Spinal Muscular Atrophy, Jokela Type

Articles related to Spinal Muscular Atrophy, Jokela Type:

(showing 21, show less)
# Title Authors PMID Year
1
Late onset spinal motor neuronopathy is caused by mutation in CHCHD10. 6 57 61
25428574 2015
2
Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease. 6 57
25113787 2014
3
Late-onset lower motor neuronopathy: a new autosomal dominant disorder. 57 6
21715705 2011
4
CHCHD10 variants in amyotrophic lateral sclerosis: Where is the evidence? 6
30014597 2018
5
A novel CHCHD10 mutation implicates a Mia40-dependent mitochondrial import deficit in ALS. 6
29789341 2018
6
CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency. 6
29315381 2018
7
In vitro and in vivo studies of the ALS-FTLD protein CHCHD10 reveal novel mitochondrial topology and protein interactions. 6
29112723 2018
8
Loss of CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS. 6
29121267 2018
9
Loss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity. 6
28585542 2017
10
Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain. 6
26152333 2015
11
Mutation analysis of CHCHD10 in different neurodegenerative diseases. 6
25833818 2015
12
A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation. 6
25681414 2015
13
Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis. 6
25261972 2014
14
Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2. 57
22535186 2012
15
Early death of ALS-linked CHCHD10-R15L transgenic mice with central nervous system, skeletal muscle, and cardiac pathology. 61
33659869 2021
16
Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases. 61
30092269 2018
17
Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val. 61
26224640 2016
18
Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders. 61
26999347 2016
19
CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis. 61
26666268 2016
20
CHCHD10-Related Disorders 61
26131548 2015
21
CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease. 61
27066538 2015

Variations for Spinal Muscular Atrophy, Jokela Type

ClinVar genetic disease variations for Spinal Muscular Atrophy, Jokela Type:

6 (showing 65, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHCHD10 NM_213720.3(CHCHD10):c.197G>T (p.Gly66Val) SNV Pathogenic 180221 rs730880031 GRCh37: 22:24109625-24109625
GRCh38: 22:23767438-23767438
2 CHCHD10 NM_213720.3(CHCHD10):c.44G>T (p.Arg15Leu) SNV Pathogenic 180220 rs730880030 GRCh37: 22:24109778-24109778
GRCh38: 22:23767591-23767591
3 CHCHD10 NM_213720.3(CHCHD10):c.235G>A (p.Glu79Lys) SNV Uncertain significance 1021740 GRCh37: 22:24109587-24109587
GRCh38: 22:23767400-23767400
4 CHCHD10 NC_000022.10:g.(?_24108174)_(24110081_?)dup Duplication Uncertain significance 473419 GRCh37: 22:24108174-24110081
GRCh38: 22:23765987-23767894
5 CHCHD10 NM_213720.3(CHCHD10):c.349A>T (p.Ser117Cys) SNV Uncertain significance 473426 rs931085449 GRCh37: 22:24108375-24108375
GRCh38: 22:23766188-23766188
6 CHCHD10 NM_213720.3(CHCHD10):c.214G>A (p.Ala72Thr) SNV Uncertain significance 473421 rs542541060 GRCh37: 22:24109608-24109608
GRCh38: 22:23767421-23767421
7 CHCHD10 NM_213720.3(CHCHD10):c.274G>A (p.Ala92Thr) SNV Uncertain significance 540611 rs374353973 GRCh37: 22:24108450-24108450
GRCh38: 22:23766263-23766263
8 CHCHD10 NM_213720.3(CHCHD10):c.327C>G (p.Phe109Leu) SNV Uncertain significance 540612 rs1438034155 GRCh37: 22:24108397-24108397
GRCh38: 22:23766210-23766210
9 CHCHD10 NM_213720.3(CHCHD10):c.214G>C (p.Ala72Pro) SNV Uncertain significance 652563 rs542541060 GRCh37: 22:24109608-24109608
GRCh38: 22:23767421-23767421
10 CHCHD10 NM_213720.3(CHCHD10):c.42-2A>G SNV Uncertain significance 1043375 GRCh37: 22:24109782-24109782
GRCh38: 22:23767595-23767595
11 CHCHD10 NM_213720.3(CHCHD10):c.312C>G (p.Tyr104Ter) SNV Uncertain significance 565755 rs9153 GRCh37: 22:24108412-24108412
GRCh38: 22:23766225-23766225
12 CHCHD10 NM_213720.3(CHCHD10):c.276T>A (p.Ala92=) SNV Uncertain significance 567906 rs1252496774 GRCh37: 22:24108448-24108448
GRCh38: 22:23766261-23766261
13 CHCHD10 NM_213720.3(CHCHD10):c.386T>C (p.Leu129Pro) SNV Uncertain significance 568579 rs1569149526 GRCh37: 22:24108338-24108338
GRCh38: 22:23766151-23766151
14 CHCHD10 NM_213720.3(CHCHD10):c.312C>A (p.Tyr104Ter) SNV Uncertain significance 569761 rs9153 GRCh37: 22:24108412-24108412
GRCh38: 22:23766225-23766225
15 CHCHD10 NM_213720.3(CHCHD10):c.31C>G (p.Arg11Gly) SNV Uncertain significance 570385 rs951686050 GRCh37: 22:24110031-24110031
GRCh38: 22:23767844-23767844
16 CHCHD10 NM_213720.3(CHCHD10):c.197G>A (p.Gly66Asp) SNV Uncertain significance 572533 rs730880031 GRCh37: 22:24109625-24109625
GRCh38: 22:23767438-23767438
17 CHCHD10 NM_213720.3(CHCHD10):c.190G>A (p.Val64Ile) SNV Uncertain significance 573913 rs781304084 GRCh37: 22:24109632-24109632
GRCh38: 22:23767445-23767445
18 CHCHD10 NM_213720.3(CHCHD10):c.377G>A (p.Ser126Asn) SNV Uncertain significance 640224 rs1601354726 GRCh37: 22:24108347-24108347
GRCh38: 22:23766160-23766160
19 CHCHD10 NM_213720.3(CHCHD10):c.224G>A (p.Gly75Glu) SNV Uncertain significance 640736 rs767069606 GRCh37: 22:24109598-24109598
GRCh38: 22:23767411-23767411
20 CHCHD10 NM_213720.3(CHCHD10):c.410G>T (p.Gly137Val) SNV Uncertain significance 648284 rs1197865297 GRCh37: 22:24108213-24108213
GRCh38: 22:23766026-23766026
21 CHCHD10 NM_213720.3(CHCHD10):c.332A>G (p.Asp111Gly) SNV Uncertain significance 652408 rs750293377 GRCh37: 22:24108392-24108392
GRCh38: 22:23766205-23766205
22 CHCHD10 NC_000022.11:g.(?_23767364)_(23767982_?)del Deletion Uncertain significance 654106 GRCh37: 22:24109551-24110169
GRCh38: 22:23767364-23767982
23 CHCHD10 NM_213720.3(CHCHD10):c.151A>G (p.Thr51Ala) SNV Uncertain significance 655109 rs1287389347 GRCh37: 22:24109671-24109671
GRCh38: 22:23767484-23767484
24 CHCHD10 NM_213720.3(CHCHD10):c.42C>T (p.Ser14=) SNV Uncertain significance 655645 rs1447212146 GRCh37: 22:24109780-24109780
GRCh38: 22:23767593-23767593
25 CHCHD10 NM_213720.3(CHCHD10):c.196G>A (p.Gly66Ser) SNV Uncertain significance 655998 rs374211312 GRCh37: 22:24109626-24109626
GRCh38: 22:23767439-23767439
26 overlap with 2 genes NC_000022.11:g.(?_23765824)_(23767603_?)del Deletion Uncertain significance 831034 GRCh37: 22:24108011-24109790
GRCh38:
27 CHCHD10 NM_213720.3(CHCHD10):c.382G>T (p.Ala128Ser) SNV Uncertain significance 836327 GRCh37: 22:24108342-24108342
GRCh38: 22:23766155-23766155
28 CHCHD10 NM_213720.3(CHCHD10):c.200G>A (p.Ser67Asn) SNV Uncertain significance 844201 GRCh37: 22:24109622-24109622
GRCh38: 22:23767435-23767435
29 CHCHD10 NM_213720.3(CHCHD10):c.44G>A (p.Arg15His) SNV Uncertain significance 851626 GRCh37: 22:24109778-24109778
GRCh38: 22:23767591-23767591
30 CHCHD10 NM_213720.3(CHCHD10):c.8G>T (p.Arg3Leu) SNV Uncertain significance 855585 GRCh37: 22:24110054-24110054
GRCh38: 22:23767867-23767867
31 CHCHD10 NM_213720.3(CHCHD10):c.16C>G (p.Arg6Gly) SNV Uncertain significance 857529 GRCh37: 22:24110046-24110046
GRCh38: 22:23767859-23767859
32 CHCHD10 NM_213720.3(CHCHD10):c.70C>T (p.Pro24Ser) SNV Uncertain significance 933489 GRCh37: 22:24109752-24109752
GRCh38: 22:23767565-23767565
33 CHCHD10 NM_213720.3(CHCHD10):c.262G>T (p.Ala88Ser) SNV Uncertain significance 940618 GRCh37: 22:24108462-24108462
GRCh38: 22:23766275-23766275
34 CHCHD10 NM_213720.3(CHCHD10):c.203C>T (p.Ala68Val) SNV Uncertain significance 941430 GRCh37: 22:24109619-24109619
GRCh38: 22:23767432-23767432
35 CHCHD10 NM_213720.3(CHCHD10):c.354C>A (p.Asp118Glu) SNV Uncertain significance 951138 GRCh37: 22:24108370-24108370
GRCh38: 22:23766183-23766183
36 CHCHD10 NM_213720.3(CHCHD10):c.410-3C>T SNV Uncertain significance 968488 GRCh37: 22:24108216-24108216
GRCh38: 22:23766029-23766029
37 CHCHD10 NM_213720.3(CHCHD10):c.2T>G (p.Met1Arg) SNV Uncertain significance 1000426 GRCh37: 22:24110060-24110060
GRCh38: 22:23767873-23767873
38 CHCHD10 NM_213720.3(CHCHD10):c.8G>C (p.Arg3Pro) SNV Uncertain significance 1003466 GRCh37: 22:24110054-24110054
GRCh38: 22:23767867-23767867
39 CHCHD10 NM_213720.3(CHCHD10):c.409+1G>A SNV Uncertain significance 1026524 GRCh37: 22:24108314-24108314
GRCh38: 22:23766127-23766127
40 CHCHD10 NM_213720.3(CHCHD10):c.263C>A (p.Ala88Asp) SNV Uncertain significance 1036655 GRCh37: 22:24108461-24108461
GRCh38: 22:23766274-23766274
41 CHCHD10 NM_213720.3(CHCHD10):c.55C>T (p.Pro19Ser) SNV Uncertain significance 1040911 GRCh37: 22:24109767-24109767
GRCh38: 22:23767580-23767580
42 CHCHD10 NC_000022.10:g.(?_24109541)_(24110081_?)del Deletion Uncertain significance 1043025 GRCh37: 22:24109541-24110081
GRCh38:
43 CHCHD10 NM_213720.3(CHCHD10):c.302C>T (p.Pro101Leu) SNV Uncertain significance 1052112 GRCh37: 22:24108422-24108422
GRCh38: 22:23766235-23766235
44 overlap with 2 genes NC_000022.10:g.(?_24108011)_(24110169_?)dup Duplication Uncertain significance 665651 GRCh37: 22:24108011-24110169
GRCh38: 22:23765824-23767982
45 CHCHD10 NM_213720.3(CHCHD10):c.229A>G (p.Ser77Gly) SNV Likely benign 705839 rs370872556 GRCh37: 22:24109593-24109593
GRCh38: 22:23767406-23767406
46 CHCHD10 NM_213720.3(CHCHD10):c.171G>A (p.Val57=) SNV Likely benign 506461 rs780298646 GRCh37: 22:24109651-24109651
GRCh38: 22:23767464-23767464
47 CHCHD10 NM_213720.3(CHCHD10):c.273C>T (p.Pro91=) SNV Likely benign 776092 rs773772416 GRCh37: 22:24108451-24108451
GRCh38: 22:23766264-23766264
48 CHCHD10 NM_213720.3(CHCHD10):c.153G>T (p.Thr51=) SNV Likely benign 799784 rs772927642 GRCh37: 22:24109669-24109669
GRCh38: 22:23767482-23767482
49 CHCHD10 NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu) SNV Likely benign 204292 rs775332895 GRCh37: 22:24109583-24109583
GRCh38: 22:23767396-23767396
50 CHCHD10 NM_213720.3(CHCHD10):c.21C>T (p.Ser7=) SNV Likely benign 473422 rs984321947 GRCh37: 22:24110041-24110041
GRCh38: 22:23767854-23767854
51 CHCHD10 NM_213720.3(CHCHD10):c.113C>T (p.Pro38Leu) SNV Likely benign 540613 rs564997204 GRCh37: 22:24109709-24109709
GRCh38: 22:23767522-23767522
52 CHCHD10 NM_213720.3(CHCHD10):c.403T>C (p.Tyr135His) SNV Likely benign 540614 rs145649831 GRCh37: 22:24108321-24108321
GRCh38: 22:23766134-23766134
53 CHCHD10 NM_213720.3(CHCHD10):c.42-9C>A SNV Likely benign 540615 rs1392906115 GRCh37: 22:24109789-24109789
GRCh38: 22:23767602-23767602
54 CHCHD10 NM_213720.3(CHCHD10):c.410-8del Deletion Likely benign 763752 rs759453467 GRCh37: 22:24108221-24108221
GRCh38: 22:23766034-23766034
55 CHCHD10 NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser) SNV Likely benign 204291 rs551521196 GRCh37: 22:24109722-24109722
GRCh38: 22:23767535-23767535
56 CHCHD10 NM_213720.3(CHCHD10):c.378C>T (p.Ser126=) SNV Likely benign 473427 rs199579266 GRCh37: 22:24108346-24108346
GRCh38: 22:23766159-23766159
57 CHCHD10 NM_213720.3(CHCHD10):c.286C>A (p.Pro96Thr) SNV Benign 473424 rs111677724 GRCh37: 22:24108438-24108438
GRCh38: 22:23766251-23766251
58 CHCHD10 NM_213720.3(CHCHD10):c.234G>A (p.Ser78=) SNV Benign 473423 rs111527940 GRCh37: 22:24109588-24109588
GRCh38: 22:23767401-23767401
59 CHCHD10 NM_213720.3(CHCHD10):c.136G>T (p.Ala46Ser) SNV Benign 473420 rs200831077 GRCh37: 22:24109686-24109686
GRCh38: 22:23767499-23767499
60 CHCHD10 NM_213720.3(CHCHD10):c.330G>A (p.Leu110=) SNV Benign 473425 rs138183274 GRCh37: 22:24108394-24108394
GRCh38: 22:23766207-23766207
61 CHCHD10 NM_213720.3(CHCHD10):c.312C>T (p.Tyr104=) SNV Benign 379953 rs9153 GRCh37: 22:24108412-24108412
GRCh38: 22:23766225-23766225
62 CHCHD10 NM_213720.3(CHCHD10):c.41+7G>A SNV Benign 473428 rs141526972 GRCh37: 22:24110014-24110014
GRCh38: 22:23767827-23767827
63 CHCHD10 NM_213720.3(CHCHD10):c.42-7C>G SNV Benign 473429 rs567239313 GRCh37: 22:24109787-24109787
GRCh38: 22:23767600-23767600
64 CHCHD10 NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser) SNV Benign 204291 rs551521196 GRCh37: 22:24109722-24109722
GRCh38: 22:23767535-23767535
65 CHCHD10 NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu) SNV Benign 204292 rs775332895 GRCh37: 22:24109583-24109583
GRCh38: 22:23767396-23767396

UniProtKB/Swiss-Prot genetic disease variations for Spinal Muscular Atrophy, Jokela Type:

72 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 CHCHD10 p.Gly66Val VAR_073285 rs730880031

Expression for Spinal Muscular Atrophy, Jokela Type

Search GEO for disease gene expression data for Spinal Muscular Atrophy, Jokela Type.

Pathways for Spinal Muscular Atrophy, Jokela Type

GO Terms for Spinal Muscular Atrophy, Jokela Type

Sources for Spinal Muscular Atrophy, Jokela Type

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