MDCL
MCID: MSC165
MIFTS: 65

Muscular Dystrophy, Congenital, Lmna-Related (MDCL)

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

Aliases & Classifications for Muscular Dystrophy, Congenital, Lmna-Related

MalaCards integrated aliases for Muscular Dystrophy, Congenital, Lmna-Related:

Name: Muscular Dystrophy, Congenital, Lmna-Related 56 52 25 71
Congenital Muscular Dystrophy 12 74 52 58 29 6 15 71
Congenital Muscular Dystrophy Due to Lmna Mutation 12 52 58 15
Lmna-Related Congenital Muscular Dystrophy 12 52 25 58
L-Cmd 12 52 25 58
Mdcl 56 52 25 73
Congenital Muscular Dystrophy, Lmna-Related 29 6
Muscular Dystrophy, Congenital 56 13
Cmd 52 58
Mdc 52 58
Dystrophy, Muscular, Congenital, Lmna-Related 39
Congenital Muscular Dystrophy Lmna-Related 12
Muscular Dystrophy Congenital Lmna-Related 73
Congenital Muscular Dystrophies 36
Dystrophy, Muscular, Congenital 39
Lmna-Related Cmd 25
Congenital Md 52

Characteristics:

Orphanet epidemiological data:

58
congenital muscular dystrophy due to lmna mutation
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
congenital muscular dystrophy
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/1000000 (Italy); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
progressive disorder
prenatal onset or onset in infancy
patients who acquire ability to walk may lose it


HPO:

31
muscular dystrophy, congenital, lmna-related:
Clinical modifier death in infancy
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Muscular Dystrophy, Congenital, Lmna-Related

Genetics Home Reference : 25 LMNA-related congenital muscular dystrophy (L-CMD) is a condition that primarily affects muscles used for movement (skeletal muscles). It is part of a group of genetic conditions called congenital muscular dystrophies, which cause weak muscle tone (hypotonia) and muscle wasting (atrophy) beginning very early in life. LMNA In people with L-CMD, muscle weakness becomes apparent in infancy or early childhood and can worsen quickly. The most severely affected infants develop few motor skills, and they are never able to hold up their heads, roll over, or sit. Less severely affected children may learn to sit, stand, and walk before muscle weakness becomes apparent. First the neck muscles weaken, causing the head to fall forward (dropped-head syndrome). As other skeletal muscles become weaker, these children may ultimately lose the ability to sit, stand, and walk unassisted. Other features of L-CMD often include spinal rigidity and abnormal curvature of the spine (scoliosis and lordosis); joint deformities (contractures) that restrict movement, particularly in the hips and legs; and an inward-turning foot. People with L-CMD also have an increased risk of heart rhythm abnormalities (arrhythmias). Over time, muscle weakness causes most infants and children with L-CMD to have trouble eating and breathing. The breathing problems result from restrictive respiratory insufficiency, which occurs when muscles in the chest are weakened and the ribcage becomes increasingly rigid. This problem can be life-threatening, and many affected children require support with a machine to help them breathe (mechanical ventilation).

MalaCards based summary : Muscular Dystrophy, Congenital, Lmna-Related, also known as congenital muscular dystrophy, is related to muscular dystrophy, congenital, due to integrin alpha-7 deficiency and muscular dystrophy, congenital, 1b. An important gene associated with Muscular Dystrophy, Congenital, Lmna-Related is LMNA (Lamin A/C), and among its related pathways/superpathways are Focal adhesion and Regulation of actin cytoskeleton. Affiliated tissues include brain, skeletal muscle and eye, and related phenotypes are axial muscle weakness and poor head control

Disease Ontology : 12 A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.

NIH Rare Diseases : 52 Congenital muscular dystrophy (CMD) refers to a group of inherited conditions that affect the muscles and are present at birth or in early infancy. The severity of the condition, the associated signs and symptoms and the disease progression vary significantly by type. Common features include hypotonia ; progressive muscle weakness and degeneration (atrophy ); joint contractures ; and delayed motor milestones (i.e. sitting up, walking, etc). CMD can be caused by a variety of different genes . Most forms are inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.

KEGG : 36 Congenital muscular dystrophies (CMDs) are a heterogeneous group of inherited disorders characterized by muscle weakness from birth and variable clinical manifestations of the eye and central nervous system. According to the disease mechanisms, the CMDs may be grouped as follows: defects in genes encoding for structural proteins of the basal membrane or extracellular matrix of the skeletal muscle fibers, which include collagen 6 genes, laminin alpha2 chain and integrin alpha7; defects in genes encoding for putative or demonstrated glycosyltransferases, which include POMT1, POMT2, POMGnT1, fukutin, fukutin-related protein (FKRP), Large, and ISPD; defects in ER and nuclear proteins, which are selenoprotein 1 and lamin A/C.

UniProtKB/Swiss-Prot : 73 Muscular dystrophy congenital LMNA-related: A form of congenital muscular dystrophy. Patients present at birth, or within the first few months of life, with hypotonia, muscle weakness and often with joint contractures.

Wikipedia : 74 Congenital muscular dystrophies are autosomal recessively-inherited muscle diseases. They are a group of... more...

More information from OMIM: 613205

Related Diseases for Muscular Dystrophy, Congenital, Lmna-Related

Diseases in the Muscular Dystrophy family:

Muscular Dystrophy, Congenital, 1b Muscular Dystrophy, Congenital, Lmna-Related
Lama2-Related Muscular Dystrophy Congenital Muscular Dystrophy Due to Dystroglycanopathy
Progressive Muscular Dystrophy

Diseases related to Muscular Dystrophy, Congenital, Lmna-Related via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 404)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, congenital, due to integrin alpha-7 deficiency 34.6 LAMA2 DAG1
2 muscular dystrophy, congenital, 1b 34.3 RXYLT1 POMGNT1 LAMA2 GMPPB FKTN FKRP
3 collagen vi-related myopathy 33.8 COL6A3 COL6A2 COL6A1
4 muscular dystrophy-dystroglycanopathy , type b, 5 33.5 POMT2 POMT1 POMGNT1 LAMA2 GMPPB FKTN
5 muscular dystrophy-dystroglycanopathy , type b, 6 33.5 RXYLT1 POMT2 POMT1 POMGNT1 FKTN FKRP
6 congenital muscular dystrophy due to dystroglycanopathy 33.5 GMPPB FKRP
7 rigid spine muscular dystrophy 1 33.4 TTN SELENON POMT2 POMGNT1 LMNA LAMA2
8 muscular dystrophy-dystroglycanopathy , type c, 1 33.4 POMT2 POMT1 POMGNT1 GMPPB FKTN FKRP
9 rigid spine muscular dystrophy 33.3 SELENON LMNA
10 congenital muscular dystrophy without intellectual disability 33.1 POMT1 FKTN FKRP
11 congenital muscular dystrophy with intellectual disability 33.0 POMT2 POMT1 GMPPB FKRP
12 congenital muscular dystrophy with cerebellar involvement 32.9 POMT2 POMT1 POMGNT1 GMPPB FKRP
13 muscular dystrophy-dystroglycanopathy , type a, 4 32.8 RXYLT1 POMT2 POMT1 POMGNT1 LAMA2 GMPPB
14 muscular dystrophy-dystroglycanopathy 32.4 RXYLT1 POMT2 POMT1 POMGNT1 GMPPB FKTN
15 ullrich congenital muscular dystrophy 1 32.3 SELENON POMT2 POMGNT1 LMNA LAMA2 FKTN
16 lissencephaly 31.7 RXYLT1 POMT2 POMT1 POMGNT1 FKTN FKRP
17 neuromuscular disease 31.5 TTN LMNA LAMA2 GMPPB FKRP EMD
18 muscular dystrophy-dystroglycanopathy , type c, 5 31.4 TTN POMT2 POMT1 POMGNT1 LAMA2 FKTN
19 cobblestone lissencephaly 31.4 RXYLT1 POMT2 POMT1 POMGNT1 FKTN FKRP
20 familial isolated dilated cardiomyopathy 31.3 TTN FKTN DMD
21 myopathy, proximal, and ophthalmoplegia 31.3 EMD COL6A2 COL6A1
22 collagen type vi-related disorders 31.2 COL6A3 COL6A2 COL6A1
23 muscular dystrophy-dystroglycanopathy , type a, 1 31.2 POMT2 POMT1 POMGNT1 LAMA2 FKTN FKRP
24 laminopathy 31.1 LMNA EMD
25 muscle eye brain disease 31.1 RXYLT1 POMT2 POMT1 POMGNT1 GMPPB FKTN
26 muscular dystrophy 31.1 TTN SELENON RXYLT1 POMT2 POMT1 POMGNT1
27 myopathy 31.1 TTN SELENON LMNA LAMA2 FKRP FKBP14
28 cardiomyopathy, dilated, 1d 31.1 POMT2 POMT1 POMGNT1 LAMA2 FKRP DAG1
29 respiratory failure 31.1 TTN SELENON LAMA2 FKRP DMD
30 muscular dystrophy-dystroglycanopathy , type c, 4 31.1 POMT2 POMT1 POMGNT1 FKTN FKRP DAG1
31 ablepharon-macrostomia syndrome 31.1 POMT1 POMGNT1 FKTN FKRP
32 malignant hyperthermia 31.1 SELENON LAMA2 DMD
33 congenital myasthenic syndrome 31.1 TTN SELENON GMPPB FKTN EMD DAG1
34 myopathy, congenital 31.0 TTN SELENON DMD
35 emery-dreifuss muscular dystrophy 2, autosomal dominant 31.0 LMNA FKRP EMD DMD
36 autosomal recessive limb-girdle muscular dystrophy type 2c 31.0 LAMA2 FKRP DMD DAG1
37 muscular dystrophy, duchenne type 30.9 TTN LAMA2 FKTN DMD DAG1
38 atrial standstill 1 30.9 TTN LMNA FKRP EMD DMD
39 emery-dreifuss muscular dystrophy 30.8 LMNA LAMA2 EMD DMD
40 autosomal recessive limb-girdle muscular dystrophy type 2l 30.7 POMT2 POMT1 POMGNT1 FKTN FKRP DAG1
41 dilated cardiomyopathy 30.7 TTN LMNA LAMA2 FKTN FKRP EMD
42 muscular dystrophy-dystroglycanopathy , type c, 2 30.7 POMT2 POMT1 POMGNT1 GMPPB FKTN FKRP
43 limb-girdle muscular dystrophy 30.7 TTN POMT1 POMGNT1 LMNA LAMA2 FKTN
44 muscular dystrophy, becker type 30.7 TTN LAMA2 FKTN FKRP EMD DMD
45 congenital disorder of glycosylation, type in 30.6 POMT2 POMT1 POMGNT1
46 autosomal recessive limb-girdle muscular dystrophy 30.5 TTN POMT2 POMT1 POMGNT1 LAMA2 FKTN
47 walker-warburg syndrome 30.4 SELENON RXYLT1 POMT2 POMT1 POMGNT1 LMNA
48 muscular dystrophy, congenital merosin-deficient, 1a 30.3 SELENON POMT2 POMT1 POMGNT1 LMNA LAMA2
49 bethlem myopathy 1 30.0 SELENON RXYLT1 POMT2 POMT1 POMGNT1 LMNA
50 muscular disease 30.0 TTN SELENON RXYLT1 POMT2 POMT1 POMGNT1

Graphical network of the top 20 diseases related to Muscular Dystrophy, Congenital, Lmna-Related:



Diseases related to Muscular Dystrophy, Congenital, Lmna-Related

Symptoms & Phenotypes for Muscular Dystrophy, Congenital, Lmna-Related

Human phenotypes related to Muscular Dystrophy, Congenital, Lmna-Related:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 axial muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003327
2 poor head control 58 31 hallmark (90%) Very frequent (99-80%) HP:0002421
3 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
4 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
5 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
6 hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0003307
7 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
8 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
9 flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0001371
10 myopathy 58 31 frequent (33%) Frequent (79-30%) HP:0003198
11 emg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0003457
12 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
13 limitation of joint mobility 58 31 frequent (33%) Frequent (79-30%) HP:0001376
14 spinal rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0003306
15 arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011675
16 narrow chest 58 31 occasional (7.5%) Occasional (29-5%) HP:0000774
17 joint hyperflexibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0005692
18 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
19 cachexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004326
20 talipes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001883
21 decreased fetal movement 58 31 occasional (7.5%) Occasional (29-5%) HP:0001558
22 failure to thrive 31 HP:0001508
23 respiratory insufficiency due to muscle weakness 31 HP:0002747
24 death in infancy 58 Occasional (29-5%)
25 motor delay 31 HP:0001270
26 severe muscular hypotonia 31 HP:0006829
27 congenital muscular dystrophy 31 HP:0003741
28 neck muscle weakness 31 HP:0000467
29 generalized amyotrophy 31 HP:0003700
30 elevated serum creatine kinase 31 HP:0003236

Symptoms via clinical synopsis from OMIM:

56
Growth Other:
failure to thrive

Head And Neck Neck:
neck muscle weakness
floppy neck
loss of head control

Neurologic Central Nervous System:
delayed motor development

Laboratory Abnormalities:
increased serum creatine kinase

Prenatal Manifestations Movement:
decreased fetal movements

Skeletal Limbs:
elbow laxity

Respiratory:
respiratory insufficiency due to muscle weakness

Muscle Soft Tissue:
generalized amyotrophy
hypotonia, severe
muscle weakness, severe, proximal and distal
axial weakness
head drop due to neck muscle weakness
more
Skeletal:
joint contractures

Skeletal Spine:
rigid spine
stiff spine

Cardiovascular Heart:
conduction abnormalities (less common)

Skeletal Feet:
talipes foot deformities

Clinical features from OMIM:

613205

GenomeRNAi Phenotypes related to Muscular Dystrophy, Congenital, Lmna-Related according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.13 B3GALNT2
2 Decreased viability GR00221-A-2 10.13 TTN
3 Decreased viability GR00221-A-4 10.13 TTN
4 Decreased viability GR00240-S-1 10.13 LMNA
5 Decreased viability GR00342-S-1 10.13 TTN
6 Decreased viability GR00342-S-3 10.13 TTN
7 Decreased viability GR00381-A-1 10.13 COL6A2 FKRP LAMA2
8 Decreased viability GR00381-A-3 10.13 COL6A2
9 Decreased viability GR00402-S-2 10.13 B3GALNT2 B3GNT2 COL6A1 COL6A2 COL6A3 DAG1
10 no effect GR00402-S-1 9.62 B3GALNT2 B3GNT2 COL6A1 COL6A2 COL6A3 DAG1

MGI Mouse Phenotypes related to Muscular Dystrophy, Congenital, Lmna-Related:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.17 B3GNT2 COL6A2 DAG1 DMD EMD FKRP
2 cellular MP:0005384 10.07 B3GNT2 COL6A3 DAG1 DMD EMD FKRP
3 growth/size/body region MP:0005378 10 B3GALNT2 B3GNT2 COL6A2 COL6A3 DAG1 DMD
4 muscle MP:0005369 9.77 COL6A1 COL6A3 DAG1 DMD EMD FKRP
5 vision/eye MP:0005391 9.28 COL6A3 DAG1 DMD FKRP LMNA POMGNT1

Drugs & Therapeutics for Muscular Dystrophy, Congenital, Lmna-Related

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Low Protein Diet to Correct Defective Autophagy in Patients With Collagen VI Related Myopathies Completed NCT01438788 Phase 2
2 Congenital Muscular Dystrophy Ascending Multiple Dose Cohort Study Analyzing Pharmacokinetics at Three Dose Levels In Children and Adolescents With Assessment of Safety and Tolerability of Omigapil (CALLISTO) Completed NCT01805024 Phase 1 Omigapil
3 Congenital Muscle Disease Patient and Proxy Reported Outcome Study Unknown status NCT01403402
4 Identification of Predictors of Cardiac Arrhythmias and Sudden Death in Pediatric Patients Affected With Laminopathies Unknown status NCT02601066
5 Congenital Muscular Dystrophy (CMD) and the Feasibility of Hyperinsufflation Therapy to Slow Rate of Decline in Lung Volume Completed NCT01836627
6 Fedt og Sukkerstofskiftet Under Faste Hos Patienter Med Lav Muskelmasse. Completed NCT03970135
7 MRI and Muscle Involvement in Patients With Mutations in GMPPB Completed NCT02635321
8 The Calibration and Validation of the PROMIS and Neuro-QOL Questionnaires in Cerebral Palsy and Congenital Muscular Dystrophy Completed NCT02153970
9 The Global FKRP Patient Registry Recruiting NCT04001595
10 National Registry for Egyptian Pediatric Neuromuscular Diseases Recruiting NCT02124616
11 Clinical Trial Readiness for the Dystroglycanopathies Recruiting NCT00313677
12 Global Registry for COL6-related Dystrophies Recruiting NCT04020159
13 A LAMA2-related Muscular Dystrophy Study: Brain Magnetic Resonance Imaging (MRI)and Brain Electrophysiology Evaluation Withdrawn NCT01952028

Search NIH Clinical Center for Muscular Dystrophy, Congenital, Lmna-Related

Genetic Tests for Muscular Dystrophy, Congenital, Lmna-Related

Genetic tests related to Muscular Dystrophy, Congenital, Lmna-Related:

# Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy, Lmna-Related 29 LMNA
2 Congenital Muscular Dystrophy 29

Anatomical Context for Muscular Dystrophy, Congenital, Lmna-Related

MalaCards organs/tissues related to Muscular Dystrophy, Congenital, Lmna-Related:

40
Brain, Skeletal Muscle, Eye, Heart, Lung, B Cells, Skin

Publications for Muscular Dystrophy, Congenital, Lmna-Related

Articles related to Muscular Dystrophy, Congenital, Lmna-Related:

(show top 50) (show all 1513)
# Title Authors PMID Year
1
De novo LMNA mutations cause a new form of congenital muscular dystrophy. 61 56 6
18551513 2008
2
Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes. 61 56 6
15961312 2005
3
p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. 56 6
15622532 2005
4
Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant. 56 6
15148145 2004
5
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. 61 6
20848652 2011
6
Consensus statement on standard of care for congenital muscular dystrophies. 61 6
21078917 2010
7
Congenital Muscular Dystrophy Overview 61 6
20301468 2001
8
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 6
30055862 2018
9
Diagnostic approach to the congenital muscular dystrophies. 6
24581957 2014
10
Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells. 6
17881656 2007
11
Differentiating Congenital Myopathy from Congenital Muscular Dystrophy. 61
32000926 2020
12
A novel de novo variant of LAMA2 contributes to merosin deficient congenital muscular dystrophy type 1A: Case report. 61
31929873 2020
13
Muscular, Ocular and Brain Involvement Associated with a De Novo 11q13.2q14.1 Duplication: Contribution to the Differential Diagnosis of Muscle-Eye-Brain Congenital Muscular Dystrophy. 61
31796684 2020
14
Acute rhabdomyolysis following viral infection with coxsackie A4 in a 50-day-old infant with Fukuyama congenital muscular dystrophy. 61
31983616 2020
15
A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients. 61
31909476 2020
16
Two middle-aged women with the Finnish variant of muscle-eye-brain disease (MEB). 61
31580529 2019
17
Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families. 61
31833209 2019
18
Congenital Muscular Dystrophy and Congenital Myopathy. 61
31794464 2019
19
Mutant lamins cause nuclear envelope rupture and DNA damage in skeletal muscle cells. 61
31844279 2019
20
Megaconial congenital muscular dystrophy: Same novel homozygous mutation in CHKB gene in two unrelated Chinese patients. 61
31926838 2019
21
Isolated Unilateral Cerebellar Hemispheric Dysplasia: A Rare Entity. 61
31352912 2019
22
iPCSK9 treatment of Familial Hypercholesterolemia in a patient diagnosed as Congenital Muscular Dystrophy with contraindication for statin use. 61
30979437 2019
23
Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies. 61
31653707 2019
24
Type IV Collagen Is Essential for Proper Function of Integrin-Mediated Adhesion in Drosophila Muscle Fibers. 61
31623094 2019
25
Pax7, Pax3 and Mamstr genes are involved in skeletal muscle impaired regeneration of dy2J/dy2J mouse model of Lama2-CMD. 61
31348492 2019
26
Phosphoinositide 5-phosphatases SKIP and SHIP2 in ruffles, the endoplasmic reticulum and the nucleus: An update. 61
31628071 2019
27
Recent advancements in exon-skipping therapies using antisense oligonucleotides and genome editing for the treatment of various muscular dystrophies. 61
31576784 2019
28
Improvement of motor conduction velocity in hereditary neuropathy of LAMA2-CMD dy2J/dy2J mouse model by glatiramer acetate. 61
31476705 2019
29
Early skeletal muscle pathology and disease progress in the dy3K/dy3K mouse model of congenital muscular dystrophy with laminin α2 chain-deficiency. 61
31586140 2019
30
Autosomal recessive Bethlem myopathy: A clinical, genetic and functional study. 61
31471117 2019
31
A mutation-independent approach for muscular dystrophy via upregulation of a modifier gene. 61
31341277 2019
32
Functional rescue in a mouse model of congenital muscular dystrophy with megaconial myopathy. 61
31216357 2019
33
Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene. 61
30986505 2019
34
A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement. 61
31130378 2019
35
Loss of function of Colgalt1 disrupts collagen post-translational modification and causes musculoskeletal defects. 61
31101663 2019
36
Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI. 61
31040037 2019
37
Missense mutations in LAMA2 causing a new phenotype of mild cognitive impairment, proximal myopathy, seizure, and severe leukoencephalopathy: A case report and protein analysis. 61
30900984 2019
38
Overexpression of miR-29 Leads to Myopathy that Resemble Pathology of Ullrich Congenital Muscular Dystrophy. 61
31096686 2019
39
Congenital myopathy with a novel SELN missense mutation and the challenge to differentiate it from congenital muscular dystrophy. 61
30612914 2019
40
Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report. 61
30961548 2019
41
Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G. 61
31041397 2019
42
Severe Neonatal RYR1 Myopathy With Pathological Features of Congenital Muscular Dystrophy. 61
30715496 2019
43
Rare variant in LAMA2 gene causing congenital muscular dystrophy in a Sudanese family. A case report. 61
31309178 2019
44
[Clinical manifestations and genetics analysis of collagen type Ⅵ-related myopathy caused by variants in COL6A3 gene]. 61
30695889 2019
45
Late-onset megaconial myopathy in mice lacking group I Paks. 61
30791960 2019
46
Current understanding and treatment of cardiac and skeletal muscle pathology in laminin-α2 chain-deficient congenital muscular dystrophy. 61
31308722 2019
47
Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients. 61
31133972 2019
48
Cellular rescue in a zebrafish model of congenital muscular dystrophy type 1A. 61
31754462 2019
49
Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy. 61
31044083 2019
50
Renal dysfunction is rare in Fukuyama congenital muscular dystrophy. 61
30077507 2019

Variations for Muscular Dystrophy, Congenital, Lmna-Related

ClinVar genetic disease variations for Muscular Dystrophy, Congenital, Lmna-Related:

6 (show top 50) (show all 69) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LMNA NM_170707.4(LMNA):c.810+1G>CSNV Pathogenic 216958 rs267607632 1:156104767-156104767 1:156134976-156134976
2 LMNA NM_170707.4(LMNA):c.91_93del (p.Glu31del)deletion Pathogenic 218376 rs864309525 1:156084798-156084800 1:156115007-156115009
3 LMNA NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)SNV Pathogenic 14486 rs11575937 1:156106776-156106776 1:156136985-156136985
4 LMNA NM_170707.4(LMNA):c.428C>T (p.Ser143Phe)SNV Pathogenic 14510 rs58912633 1:156100479-156100479 1:156130688-156130688
5 LMNA NM_170707.4(LMNA):c.1139T>C (p.Leu380Ser)SNV Pathogenic 14523 rs121912495 1:156105894-156105894 1:156136103-156136103
6 LMNA NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys)SNV Pathogenic 14525 rs60458016 1:156105827-156105827 1:156136036-156136036
7 CAPN3 , SGCB NM_000070.3(CAPN3):c.550del (p.Thr184fs)deletion Pathogenic 17621 rs80338800 15:42680001-42680001 15:42387803-42387803
8 LMNA NM_170707.4(LMNA):c.94_96del (p.Lys32del)deletion Pathogenic 66960 rs60872029 1:156084801-156084803 1:156115010-156115012
9 LMNA NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)SNV Pathogenic/Likely pathogenic 66762 rs267607555 1:156105800-156105800 1:156136009-156136009
10 LMNA NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)SNV Pathogenic/Likely pathogenic 36473 rs386134243 1:156105758-156105758 1:156135967-156135967
11 LMNA NM_170707.4(LMNA):c.745C>T (p.Arg249Trp)SNV Pathogenic/Likely pathogenic 14524 rs121912496 1:156104701-156104701 1:156134910-156134910
12 TTN NM_001267550.2(TTN):c.101019_101020dup (p.Arg33674fs)duplication Pathogenic/Likely pathogenic 279965 rs886041287 2:179400321-179400322 2:178535594-178535595
13 FKBP14 NM_017946.3(FKBP14):c.362dup (p.Glu122fs)duplication Pathogenic/Likely pathogenic 279809 rs542489955 7:30058726-30058727 7:30019110-30019111
14 LMNA NM_170707.4(LMNA):c.130G>T (p.Val44Phe)SNV Likely pathogenic 374201 rs1057518971 1:156084839-156084839 1:156115048-156115048
15 RYR1 NM_000540.2(RYR1):c.1186G>A (p.Glu396Lys)SNV Likely pathogenic 374199 rs774919231 19:38942467-38942467 19:38451827-38451827
16 LMNA NM_170707.4(LMNA):c.94A>G (p.Lys32Glu)SNV Likely pathogenic 476837 rs1553261891 1:156084803-156084803 1:156115012-156115012
17 LMNA NM_170707.4(LMNA):c.59C>T (p.Pro20Leu)SNV Likely pathogenic 523026 rs1553261858 1:156084768-156084768 1:156114977-156114977
18 LAMA2 NM_000426.3(LAMA2):c.5460del (p.Val1821fs)deletion Likely pathogenic 560376 rs1562530132 6:129722383-129722383 6:129401238-129401238
19 LMNA NM_170707.4(LMNA):c.80C>T (p.Thr27Ile)SNV Likely pathogenic 804298 1:156084789-156084789 1:156114998-156114998
20 LMNA NM_170707.4(LMNA):c.1381-2A>GSNV Likely pathogenic 36475 rs267607600 1:156106710-156106710 1:156136919-156136919
21 NEB NM_001271208.2(NEB):c.25472C>T (p.Thr8491Met)SNV Conflicting interpretations of pathogenicity 194453 rs78592085 2:152346522-152346522 2:151490008-151490008
22 LMNA NM_170707.4(LMNA):c.1551G>A (p.Gln517=)SNV Conflicting interpretations of pathogenicity 199111 rs41314035 1:156106966-156106966 1:156137175-156137175
23 LMNA NM_170707.4(LMNA):c.1931G>A (p.Arg644His)SNV Conflicting interpretations of pathogenicity 161291 rs368386019 1:156108511-156108511 1:156138720-156138720
24 POMT2 NM_013382.5(POMT2):c.-47_-44deldeletion Conflicting interpretations of pathogenicity 162596 rs368351148 14:77787068-77787071 14:77320725-77320728
25 LMNA NM_170707.4(LMNA):c.1149G>A (p.Glu383=)SNV Conflicting interpretations of pathogenicity 66780 rs267607603 1:156105904-156105904 1:156136113-156136113
26 RYR1 NM_000540.2(RYR1):c.13513G>C (p.Asp4505His)SNV Conflicting interpretations of pathogenicity 93252 rs150396398 19:39057626-39057626 19:38566986-38566986
27 LMNA NM_170707.4(LMNA):c.1566C>T (p.Cys522=)SNV Conflicting interpretations of pathogenicity 48043 rs149339264 1:156106981-156106981 1:156137190-156137190
28 LMNA NM_170707.4(LMNA):c.936+12C>TSNV Conflicting interpretations of pathogenicity 292837 rs199881992 1:156105115-156105115 1:156135324-156135324
29 LMNA NM_170707.4(LMNA):c.1488G>A (p.Thr496=)SNV Conflicting interpretations of pathogenicity 292839 rs375516745 1:156106819-156106819 1:156137028-156137028
30 LMNA NM_170707.4(LMNA):c.1391T>A (p.Met464Lys)SNV Conflicting interpretations of pathogenicity 561054 rs1281896947 1:156106722-156106722 1:156136931-156136931
31 RYR1 NM_000540.2(RYR1):c.844C>T (p.Arg282Trp)SNV Conflicting interpretations of pathogenicity 374200 rs1057518970 19:38939038-38939038 19:38448398-38448398
32 LMNA NM_170707.4(LMNA):c.514-11C>TSNV Conflicting interpretations of pathogenicity 292836 rs886045365 1:156104183-156104183 1:156134392-156134392
33 LMNA NM_170707.4(LMNA):c.294G>A (p.Glu98=)SNV Conflicting interpretations of pathogenicity 292834 rs886045363 1:156085003-156085003 1:156115212-156115212
34 LMNA NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys)SNV Conflicting interpretations of pathogenicity 66862 rs267607613 1:156107469-156107469 1:156137678-156137678
35 LMNA NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)SNV Uncertain significance 245964 rs200466188 1:156106818-156106818 1:156137027-156137027
36 LMNA NM_170707.4(LMNA):c.-109G>TSNV Uncertain significance 292830 rs886045360 1:156084601-156084601 1:156114810-156114810
37 LMNA NM_170707.4(LMNA):c.-138T>CSNV Uncertain significance 292828 rs886045359 1:156084572-156084572 1:156114781-156114781
38 LMNA NM_170707.4(LMNA):c.-62C>ASNV Uncertain significance 292832 rs886045361 1:156084648-156084648 1:156114857-156114857
39 LMNA NM_170707.4(LMNA):c.295C>A (p.Arg99Ser)SNV Uncertain significance 292835 rs886045364 1:156085004-156085004 1:156115213-156115213
40 LMNA NM_170707.4(LMNA):c.1698+124C>TSNV Uncertain significance 368833 rs1057516022 1:156107658-156107658 1:156137867-156137867
41 LMNA NM_170707.4(LMNA):c.985C>A (p.Arg329Ser)SNV Uncertain significance 292838 rs775159300 1:156105740-156105740 1:156135949-156135949
42 LMNA NM_170707.4(LMNA):c.-5C>ASNV Uncertain significance 292833 rs886045362 1:156084705-156084705 1:156114914-156114914
43 NEB NM_001271208.2(NEB):c.7362C>G (p.Asn2454Lys)SNV Uncertain significance 374050 rs1057518861 2:152506759-152506759 2:151650245-151650245
44 LMNA NM_170707.4(LMNA):c.703C>A (p.Arg235Ser)SNV Uncertain significance 587437 rs201227908 1:156104659-156104659 1:156134868-156134868
45 LMNA NM_170707.4(LMNA):c.113T>A (p.Leu38His)SNV Uncertain significance 561053 rs1558116084 1:156084822-156084822 1:156115031-156115031
46 LMNA NM_170707.4(LMNA):c.1756G>A (p.Val586Met)SNV Uncertain significance 487635 rs758048062 1:156108336-156108336 1:156138545-156138545
47 RYR1 NM_000540.2(RYR1):c.14713C>A (p.Pro4905Thr)SNV Uncertain significance 374142 rs1057518924 19:39075649-39075649 19:38585009-38585009
48 COL6A2 NC_000021.9:g.46132536_46132539delinsACCAindel Uncertain significance 689371 21:47552450-47552453 21:46132536-46132539
49 LMNA NM_005572.3(LMNA):c.-226C>TSNV Uncertain significance 292823 rs886045354 1:156084484-156084484 1:156114693-156114693
50 LMNA NM_005572.3(LMNA):c.-225C>ASNV Uncertain significance 292824 rs886045355 1:156084485-156084485 1:156114694-156114694

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Congenital, Lmna-Related:

73
# Symbol AA change Variation ID SNP ID
1 LMNA p.Arg50Pro VAR_009972 rs60695352
2 LMNA p.Glu358Lys VAR_009985 rs60458016
3 LMNA p.Asn39Ser VAR_063588 rs57983345
4 LMNA p.Arg249Trp VAR_063589 rs121912496
5 LMNA p.Leu302Pro VAR_063590 rs267607596
6 LMNA p.Leu380Ser VAR_063591 rs121912495
7 LMNA p.Arg453Pro VAR_063592 rs267607598
8 LMNA p.Arg455Pro VAR_063593 rs267607597
9 LMNA p.Asn456Asp VAR_063594 rs267607599

Expression for Muscular Dystrophy, Congenital, Lmna-Related

Search GEO for disease gene expression data for Muscular Dystrophy, Congenital, Lmna-Related.

Pathways for Muscular Dystrophy, Congenital, Lmna-Related

Pathways related to Muscular Dystrophy, Congenital, Lmna-Related according to KEGG:

36
# Name Kegg Source Accession
1 Focal adhesion hsa04510
2 Regulation of actin cytoskeleton hsa04810

GO Terms for Muscular Dystrophy, Congenital, Lmna-Related

Cellular components related to Muscular Dystrophy, Congenital, Lmna-Related according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.91 RXYLT1 POMGNT1 FKTN FKRP DMD B3GNT2
2 Golgi membrane GO:0000139 9.85 RXYLT1 POMGNT1 FKRP B3GNT2 B3GALNT2
3 collagen-containing extracellular matrix GO:0062023 9.72 LAMA2 DAG1 COL6A3 COL6A2 COL6A1
4 endoplasmic reticulum lumen GO:0005788 9.65 FKBP14 DAG1 COL6A3 COL6A2 COL6A1
5 endoplasmic reticulum GO:0005783 9.61 SELENON POMT2 POMT1 FKTN FKRP FKBP14
6 collagen trimer GO:0005581 9.58 COL6A3 COL6A2 COL6A1
7 costamere GO:0043034 9.48 DMD DAG1
8 dystrophin-associated glycoprotein complex GO:0016010 9.43 DMD DAG1
9 sarcolemma GO:0042383 9.17 LAMA2 FKRP DMD DAG1 COL6A3 COL6A2
10 collagen type VI trimer GO:0005589 9.16 COL6A3 COL6A1

Biological processes related to Muscular Dystrophy, Congenital, Lmna-Related according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.8 POMT1 LAMA2 DAG1 COL6A3 COL6A2 COL6A1
2 muscle organ development GO:0007517 9.65 LAMA2 FKTN EMD DMD COL6A3
3 protein O-linked glycosylation GO:0006493 9.63 POMT2 POMT1 POMGNT1 FKTN B3GNT2 B3GALNT2
4 growth plate cartilage chondrocyte morphogenesis GO:0003429 9.54 COL6A3 COL6A2 COL6A1
5 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.51 SELENON DMD
6 mannosylation GO:0097502 9.49 POMT2 POMT1
7 response to denervation involved in regulation of muscle adaptation GO:0014894 9.48 DMD DAG1
8 mitotic nuclear envelope reassembly GO:0007084 9.46 LMNA EMD
9 Schwann cell differentiation GO:0014037 9.43 LAMA2 DAG1
10 positive regulation of protein O-linked glycosylation GO:1904100 9.4 POMT2 POMT1
11 protein O-linked mannosylation GO:0035269 9.35 RXYLT1 POMT2 POMT1 FKTN FKRP
12 protein glycosylation GO:0006486 9.23 RXYLT1 POMT2 POMT1 POMGNT1 FKTN FKRP

Molecular functions related to Muscular Dystrophy, Congenital, Lmna-Related according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.65 TTN RXYLT1 POMT2 POMT1 POMGNT1 GMPPB
2 transferase activity, transferring glycosyl groups GO:0016757 9.55 POMT2 POMT1 POMGNT1 B3GNT2 B3GALNT2
3 structural constituent of muscle GO:0008307 9.54 TTN DMD DAG1
4 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.5 COL6A3 COL6A2 COL6A1
5 mannosyltransferase activity GO:0000030 9.46 POMT2 POMT1
6 vinculin binding GO:0017166 9.43 DMD DAG1
7 acetylglucosaminyltransferase activity GO:0008375 9.43 POMGNT1 B3GNT2 B3GALNT2
8 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.4 POMT2 POMT1
9 dystroglycan binding GO:0002162 8.8 FKRP DMD DAG1

Sources for Muscular Dystrophy, Congenital, Lmna-Related

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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