MDCMC
MCID: MSC028
MIFTS: 45

Muscular Dystrophy, Congenital, Megaconial Type (MDCMC)

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

Aliases & Classifications for Muscular Dystrophy, Congenital, Megaconial Type

MalaCards integrated aliases for Muscular Dystrophy, Congenital, Megaconial Type:

Name: Muscular Dystrophy, Congenital, Megaconial Type 57 20 72 13 70
Megaconial Type Congenital Muscular Dystrophy 12 29 6 15
Congenital Muscular Dystrophy Due to Phosphatidylcholine Biosynthesis Defect 12 20 58
Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities 12 20 58
Megaconial Congenital Muscular Dystrophy 12 20 58
Congenital Megaconial Myopathy 12 20 58
Muscular Dystrophy, Congenital, with Mitochondrial Structural Abnormalities 57 72
Mdcmc 57 72
Dystrophy, Muscular, Congenital, Megaconial Type 39
Megaconial Congénital Muscular Dystrophy 20

Characteristics:

Orphanet epidemiological data:

58
megaconial congenital muscular dystrophy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset at birth
some patients may die from cardiomyopathy in the first or second decade of life


HPO:

31
muscular dystrophy, congenital, megaconial type:
Inheritance autosomal recessive inheritance mitochondrial inheritance
Onset and clinical course slow progression congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Muscular Dystrophy, Congenital, Megaconial Type

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 280671 Definition A rare, genetic, skeletal muscle disease characterized by an early-onset hypotonia, muscle weakness, global developmental delay with intellectual disability, and cardiomyopathy. Congenital structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibers.

MalaCards based summary : Muscular Dystrophy, Congenital, Megaconial Type, also known as megaconial type congenital muscular dystrophy, is related to muscular dystrophy, congenital, lmna-related and muscular dystrophy, and has symptoms including muscle weakness, waddling gait and facial paresis. An important gene associated with Muscular Dystrophy, Congenital, Megaconial Type is CHKB (Choline Kinase Beta), and among its related pathways/superpathways are Parkinsons Disease Pathway and Synthesis of PC. Affiliated tissues include skeletal muscle, heart and skin, and related phenotypes are dilated cardiomyopathy and intellectual disability

Disease Ontology : 12 A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has material basis in homozygous or compound heterozygous mutation in the CHKB gene on chromosome 22q13.

OMIM® : 57 Megaconial-type congenital muscular dystrophy is an autosomal recessive disorder characterized by early-onset muscle wasting and mental retardation. Some patients develop fatal cardiomyopathy. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center (summary by Mitsuhashi et al., 2011). (602541) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Muscular dystrophy, congenital, megaconial type: An autosomal recessive, congenital muscular dystrophy characterized by early-onset muscle wasting, mental retardation, and dilated cardiomyopathy in half of affected individuals. Some patients may die from cardiomyopathy in the first or second decade of life. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center.

Related Diseases for Muscular Dystrophy, Congenital, Megaconial Type

Graphical network of the top 20 diseases related to Muscular Dystrophy, Congenital, Megaconial Type:



Diseases related to Muscular Dystrophy, Congenital, Megaconial Type

Symptoms & Phenotypes for Muscular Dystrophy, Congenital, Megaconial Type

Human phenotypes related to Muscular Dystrophy, Congenital, Megaconial Type:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 31 very rare (1%) HP:0001644
2 intellectual disability 31 HP:0001249
3 facial palsy 31 HP:0010628
4 delayed speech and language development 31 HP:0000750
5 microcephaly 31 HP:0000252
6 neonatal hypotonia 31 HP:0001319
7 ichthyosis 31 HP:0008064
8 myopathy 31 HP:0003198
9 elevated serum creatine kinase 31 HP:0003236
10 waddling gait 31 HP:0002515
11 motor delay 31 HP:0001270
12 muscular dystrophy 31 HP:0003560
13 congenital muscular dystrophy 31 HP:0003741
14 poor speech 31 HP:0002465
15 gowers sign 31 HP:0003391
16 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Muscle Soft Tissue:
muscle weakness
muscular dystrophy
gowers sign
hypotonia, neonatal
variation in fiber size
more
Skin Nails Hair Skin:
ichthyosis

Head And Neck Face:
facial muscle weakness

Cardiovascular Heart:
dilated cardiomyopathy (occurs in about 50%)

Head And Neck Head:
microcephaly

Neurologic Central Nervous System:
waddling gait
delayed motor development
mental retardation
poor speech development
some patients never achieve independent ambulation
more
Laboratory Abnormalities:
increased serum creatine kinase

Clinical features from OMIM®:

602541 (Updated 05-Apr-2021)

UMLS symptoms related to Muscular Dystrophy, Congenital, Megaconial Type:


muscle weakness; waddling gait; facial paresis

GenomeRNAi Phenotypes related to Muscular Dystrophy, Congenital, Megaconial Type according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 9.85 PINK1
2 Decreased viability GR00221-A-1 9.85 CHKB PINK1
3 Decreased viability GR00221-A-2 9.85 CHKA CHKB PINK1
4 Decreased viability GR00221-A-3 9.85 CHKB PINK1
5 Decreased viability GR00221-A-4 9.85 CHKA CHKB PINK1
6 Decreased viability GR00301-A 9.85 CHKB PINK1
7 Decreased viability GR00342-S-2 9.85 CHKA
8 Decreased viability GR00386-A-1 9.85 CHKA
9 Decreased viability GR00402-S-2 9.85 CHKA PINK1

Drugs & Therapeutics for Muscular Dystrophy, Congenital, Megaconial Type

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Congenital, Megaconial Type

Genetic Tests for Muscular Dystrophy, Congenital, Megaconial Type

Genetic tests related to Muscular Dystrophy, Congenital, Megaconial Type:

# Genetic test Affiliating Genes
1 Megaconial Type Congenital Muscular Dystrophy 29 CHKB

Anatomical Context for Muscular Dystrophy, Congenital, Megaconial Type

MalaCards organs/tissues related to Muscular Dystrophy, Congenital, Megaconial Type:

40
Skeletal Muscle, Heart, Skin

Publications for Muscular Dystrophy, Congenital, Megaconial Type

Articles related to Muscular Dystrophy, Congenital, Megaconial Type:

(show all 22)
# Title Authors PMID Year
1
A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. 6 57
21665002 2011
2
A new congenital muscular dystrophy with mitochondrial structural abnormalities. 57 6
9427222 1998
3
Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion. 6 61
24997086 2014
4
New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing. 6
25740612 2015
5
Molecular findings among patients referred for clinical whole-exome sequencing. 6
25326635 2014
6
A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis. 57
16371353 2006
7
Correction: Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome. 61
33767318 2021
8
Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome. 61
33712684 2021
9
The Common miRNA Signatures Associated with Mitochondrial Dysfunction in Different Muscular Dystrophies. 61
32650001 2020
10
A Rare Cause of Autism Spectrum Disorder: Megaconial Muscular Dystrophy. 61
33623274 2020
11
Megaconial congenital muscular dystrophy: Same novel homozygous mutation in CHKB gene in two unrelated Chinese patients. 61
31926838 2020
12
Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene. 61
30986505 2019
13
Late-onset megaconial myopathy in mice lacking group I Paks. 61
30791960 2019
14
A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation. 61
27169979 2016
15
Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analyses. 61
26855408 2016
16
Proximal myopathy with focal depletion of mitochondria and megaconial congenital muscular dystrophy are allelic conditions caused by mutations in CHKB. 61
26782016 2016
17
Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies. 61
27123443 2016
18
Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene. 61
26006750 2016
19
Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients. 61
26067811 2015
20
Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase β. 61
23945283 2013
21
Mitochondrial dysfunction in neuromuscular disorders. 61
24331362 2013
22
[New congenital muscular dystrophy due to CHKB mutations]. 61
24291895 2013

Variations for Muscular Dystrophy, Congenital, Megaconial Type

ClinVar genetic disease variations for Muscular Dystrophy, Congenital, Megaconial Type:

6 (show top 50) (show all 131)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHKB-CPT1B , CHKB NM_005198.4(CHKB):c.810T>A (p.Tyr270Ter) SNV Pathogenic 30952 rs750764003 GRCh37: 22:51018627-51018627
GRCh38: 22:50580198-50580198
2 CHKB-CPT1B , CHKB NM_005198.4(CHKB):c.116C>A (p.Ser39Ter) SNV Pathogenic 30953 rs387907068 GRCh37: 22:51021095-51021095
GRCh38: 22:50582666-50582666
3 CHKB-CPT1B , CHKB NM_005198.4(CHKB):c.458dup (p.Leu153fs) Duplication Pathogenic 30954 rs786205117 GRCh37: 22:51019971-51019972
GRCh38: 22:50581542-50581543
4 CHKB-CPT1B , CHKB NM_005198.4(CHKB):c.922C>T (p.Gln308Ter) SNV Pathogenic 30955 rs387907069 GRCh37: 22:51018408-51018408
GRCh38: 22:50579979-50579979
5 CHKB-CPT1B , CHKB NM_005198.4(CHKB):c.677+1G>A SNV Pathogenic 30956 rs786205118 GRCh37: 22:51018993-51018993
GRCh38: 22:50580564-50580564
6 CHKB-CPT1B , CHKB NM_005198.4(CHKB):c.400C>T (p.Gln134Ter) SNV Pathogenic 468473 rs1333100080 GRCh37: 22:51020225-51020225
GRCh38: 22:50581796-50581796
7 CHKB-CPT1B , CHKB NM_005198.4(CHKB):c.268del (p.His90fs) Deletion Pathogenic 582773 rs1569054508 GRCh37: 22:51020743-51020743
GRCh38: 22:50582314-50582314
8 CHKB-CPT1B , CHKB NM_005198.4(CHKB):c.382G>T (p.Glu128Ter) SNV Pathogenic 634595 rs1569054086 GRCh37: 22:51020243-51020243
GRCh38: 22:50581814-50581814
9 CHKB-CPT1B , CHKB NM_005198.5(CHKB):c.598del (p.Gln200fs) Deletion Pathogenic 639037 rs757369551 GRCh37: 22:51019073-51019073
GRCh38: 22:50580644-50580644
10 CHKB-CPT1B , CHKB NC_000022.11:g.(?_50579171)_(50582791_?)del Deletion Pathogenic 659590 GRCh37: 22:51017600-51021220
GRCh38: 22:50579171-50582791
11 CHKB-CPT1B , CHKB NM_005198.4(CHKB):c.1129C>T (p.Arg377Trp) SNV Pathogenic 689474 rs766848672 GRCh37: 22:51017669-51017669
GRCh38: 22:50579240-50579240
12 CHKB-CPT1B , CHKB NM_005198.4(CHKB):c.151C>T (p.Gln51Ter) SNV Pathogenic 451378 rs373091820 GRCh37: 22:51021060-51021060
GRCh38: 22:50582631-50582631
13 CHKB-CPT1B , CHKB NM_005198.4(CHKB):c.1032-2A>G SNV Likely pathogenic 536363 rs1555894289 GRCh37: 22:51017938-51017938
GRCh38: 22:50579509-50579509
14 CHKB-CPT1B , CHKB NM_005198.4(CHKB):c.1031+3G>C SNV Conflicting interpretations of pathogenicity 560978 rs751176079 GRCh37: 22:51018153-51018153
GRCh38: 22:50579724-50579724
15 CHKB-CPT1B , CHKB NM_005198.4(CHKB):c.138G>T (p.Glu46Asp) SNV Conflicting interpretations of pathogenicity 638334 rs752292240 GRCh37: 22:51021073-51021073
GRCh38: 22:50582644-50582644
16 CHKB-CPT1B , CHKB NM_005198.4(CHKB):c.263C>T (p.Pro88Leu) SNV Conflicting interpretations of pathogenicity 447030 rs146163970 GRCh37: 22:51020748-51020748
GRCh38: 22:50582319-50582319
17 CHKB-CPT1B , CHKB NM_005198.4(CHKB):c.670A>C (p.Asn224His) SNV Conflicting interpretations of pathogenicity 259661 rs149858290 GRCh37: 22:51019001-51019001
GRCh38: 22:50580572-50580572
18 CHKB-CPT1B , CHKB NM_005198.4(CHKB):c.708C>T (p.Val236=) SNV Conflicting interpretations of pathogenicity 342173 rs141934594 GRCh37: 22:51018815-51018815
GRCh38: 22:50580386-50580386
19 CHKB-CPT1B , CHKB NM_005198.4(CHKB):c.457T>C (p.Leu153=) SNV Conflicting interpretations of pathogenicity 259659 rs146693439 GRCh37: 22:51019973-51019973
GRCh38: 22:50581544-50581544
20 CHKB-CPT1B , CHKB NM_005198.4(CHKB):c.983A>G (p.Gln328Arg) SNV Conflicting interpretations of pathogenicity 128730 rs141381896 GRCh37: 22:51018204-51018204
GRCh38: 22:50579775-50579775
21 CHKB-CPT1B , CHKB NM_005198.5(CHKB):c.580C>T (p.Arg194Trp) SNV Uncertain significance 1003237 GRCh37: 22:51019850-51019850
GRCh38: 22:50581421-50581421
22 CHKB-CPT1B , CHKB NM_005198.5(CHKB):c.613A>G (p.Thr205Ala) SNV Uncertain significance 1005353 GRCh37: 22:51019058-51019058
GRCh38: 22:50580629-50580629
23 CHKB-CPT1B , CHKB NM_005198.5(CHKB):c.569G>A (p.Gly190Glu) SNV Uncertain significance 1006730 GRCh37: 22:51019861-51019861
GRCh38: 22:50581432-50581432
24 CHKB-CPT1B , CHKB NM_005198.5(CHKB):c.714C>G (p.Phe238Leu) SNV Uncertain significance 1008592 GRCh37: 22:51018809-51018809
GRCh38: 22:50580380-50580380
25 CHKB-CPT1B , CHKB NM_005198.5(CHKB):c.61G>A (p.Asp21Asn) SNV Uncertain significance 1010387 GRCh37: 22:51021150-51021150
GRCh38: 22:50582721-50582721
26 CHKB-CPT1B , CHKB NM_005198.5(CHKB):c.184C>T (p.Arg62Cys) SNV Uncertain significance 1010455 GRCh37: 22:51021027-51021027
GRCh38: 22:50582598-50582598
27 CHKB-CPT1B , CHKB NM_005198.5(CHKB):c.6G>A (p.Ala2=) SNV Uncertain significance 1011440 GRCh37: 22:51021205-51021205
GRCh38: 22:50582776-50582776
28 CHKB-CPT1B , CHKB NM_005198.4(CHKB):c.1111T>A (p.Leu371Met) SNV Uncertain significance 642440 rs372078948 GRCh37: 22:51017857-51017857
GRCh38: 22:50579428-50579428
29 CHKB-CPT1B , CHKB NM_005198.4(CHKB):c.439T>G (p.Tyr147Asp) SNV Uncertain significance 659567 rs1603443753 GRCh37: 22:51020186-51020186
GRCh38: 22:50581757-50581757
30 CHKB-CPT1B , CHKB NM_005198.5(CHKB):c.991C>G (p.Gln331Glu) SNV Uncertain significance 850471 GRCh37: 22:51018196-51018196
GRCh38: 22:50579767-50579767
31 CHKB-CPT1B , CHKB NM_005198.4(CHKB):c.224+5G>C SNV Uncertain significance 423804 rs765251030 GRCh37: 22:51020982-51020982
GRCh38: 22:50582553-50582553
32 CHKB-CPT1B , CHKB NM_005198.5(CHKB):c.106C>T (p.Arg36Trp) SNV Uncertain significance 1014380 GRCh37: 22:51021105-51021105
GRCh38: 22:50582676-50582676
33 CHKB-CPT1B , CHKB NM_005198.5(CHKB):c.908A>G (p.Tyr303Cys) SNV Uncertain significance 1023176 GRCh37: 22:51018422-51018422
GRCh38: 22:50579993-50579993
34 CHKB-CPT1B , CHKB NM_005198.5(CHKB):c.737-6C>T SNV Uncertain significance 1026059 GRCh37: 22:51018706-51018706
GRCh38: 22:50580277-50580277
35 CHKB-CPT1B , CHKB NM_005198.5(CHKB):c.815A>G (p.Tyr272Cys) SNV Uncertain significance 1026156 GRCh37: 22:51018622-51018622
GRCh38: 22:50580193-50580193
36 CHKB-CPT1B , CHKB NM_005198.4(CHKB):c.17C>T (p.Thr6Ile) SNV Uncertain significance 536362 rs1555894924 GRCh37: 22:51021194-51021194
GRCh38: 22:50582765-50582765
37 CHKB-CPT1B , CHKB NM_005198.5(CHKB):c.1052T>C (p.Phe351Ser) SNV Uncertain significance 837239 GRCh37: 22:51017916-51017916
GRCh38: 22:50579487-50579487
38 CHKB-CPT1B , CHKB NM_005198.5(CHKB):c.155G>T (p.Trp52Leu) SNV Uncertain significance 843680 GRCh37: 22:51021056-51021056
GRCh38: 22:50582627-50582627
39 CHKB-CPT1B , CHKB NM_005198.5(CHKB):c.1121C>T (p.Ala374Val) SNV Uncertain significance 844986 GRCh37: 22:51017677-51017677
GRCh38: 22:50579248-50579248
40 CHKB-CPT1B , CHKB NM_005198.5(CHKB):c.870C>A (p.His290Gln) SNV Uncertain significance 849885 GRCh37: 22:51018460-51018460
GRCh38: 22:50580031-50580031
41 CHKB-CPT1B , CHKB NM_005198.5(CHKB):c.468A>G (p.Gln156=) SNV Uncertain significance 862445 GRCh37: 22:51019962-51019962
GRCh38: 22:50581533-50581533
42 CHKB-CPT1B , CHKB NM_005198.4(CHKB):c.980C>T (p.Ser327Phe) SNV Uncertain significance 342167 rs371355721 GRCh37: 22:51018207-51018207
GRCh38: 22:50579778-50579778
43 CHKB-CPT1B , CHKB NM_005198.5(CHKB):c.709G>A (p.Val237Ile) SNV Uncertain significance 951376 GRCh37: 22:51018814-51018814
GRCh38: 22:50580385-50580385
44 CHKB-CPT1B , CHKB NM_005198.5(CHKB):c.1028G>A (p.Ser343Asn) SNV Uncertain significance 969781 GRCh37: 22:51018159-51018159
GRCh38: 22:50579730-50579730
45 CHKB-CPT1B , CHKB NM_005198.4(CHKB):c.944A>G (p.His315Arg) SNV Uncertain significance 342168 rs199641367 GRCh37: 22:51018243-51018243
GRCh38: 22:50579814-50579814
46 CHKB-CPT1B , CHKB NM_005198.4(CHKB):c.219C>T (p.Pro73=) SNV Uncertain significance 389435 rs751273046 GRCh37: 22:51020992-51020992
GRCh38: 22:50582563-50582563
47 CHKB-CPT1B , CHKB NM_005198.5(CHKB):c.1064T>C (p.Leu355Pro) SNV Uncertain significance 1029945 GRCh37: 22:51017904-51017904
GRCh38: 22:50579475-50579475
48 CHKB-CPT1B , CHKB NM_005198.4(CHKB):c.262C>G (p.Pro88Ala) SNV Uncertain significance 421711 rs547428711 GRCh37: 22:51020749-51020749
GRCh38: 22:50582320-50582320
49 CHKB-CPT1B , CHKB NM_005198.5(CHKB):c.893C>T (p.Ala298Val) SNV Uncertain significance 1034762 GRCh37: 22:51018437-51018437
GRCh38: 22:50580008-50580008
50 CHKB-CPT1B , CHKB NM_005198.5(CHKB):c.1018G>C (p.Val340Leu) SNV Uncertain significance 1036567 GRCh37: 22:51018169-51018169
GRCh38: 22:50579740-50579740

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Congenital, Megaconial Type:

72
# Symbol AA change Variation ID SNP ID
1 CHKB p.Glu283Lys VAR_081796
2 CHKB p.Arg377Leu VAR_081801 rs772705206

Expression for Muscular Dystrophy, Congenital, Megaconial Type

Search GEO for disease gene expression data for Muscular Dystrophy, Congenital, Megaconial Type.

Pathways for Muscular Dystrophy, Congenital, Megaconial Type

Pathways related to Muscular Dystrophy, Congenital, Megaconial Type according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.72 PINK1 MIR497 MIR409
2 10.6 CHKB CHKA
3
Show member pathways
10.32 CRLS1 CHKB

GO Terms for Muscular Dystrophy, Congenital, Megaconial Type

Biological processes related to Muscular Dystrophy, Congenital, Megaconial Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.71 PINK1 CHKB-CPT1B CHKB CHKA
2 gene silencing by miRNA GO:0035195 9.55 MIR708 MIR497 MIR409 MIR382 MIR134
3 phosphatidylcholine biosynthetic process GO:0006656 9.37 CHKB CHKA
4 phosphatidylethanolamine biosynthetic process GO:0006646 9.32 CHKB CHKA
5 CDP-choline pathway GO:0006657 9.26 CHKB CHKA
6 phospholipid biosynthetic process GO:0008654 9.13 CRLS1 CHKB CHKA
7 glycerophospholipid biosynthetic process GO:0046474 8.8 CRLS1 CHKB-CPT1B CHKB

Molecular functions related to Muscular Dystrophy, Congenital, Megaconial Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.56 PINK1 CHKB-CPT1B CHKB CHKA
2 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.46 MIR708 MIR497 MIR409 MIR134
3 ethanolamine kinase activity GO:0004305 8.96 CHKB CHKA
4 choline kinase activity GO:0004103 8.62 CHKB CHKA

Sources for Muscular Dystrophy, Congenital, Megaconial Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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