LGMDR17
MCID: MSC183
MIFTS: 36

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 (LGMDR17)

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

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17:

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 57 72
Muscular Dystrophy, Limb-Girdle, Type 2q 57 20 72 13 70
Lgmd2q 57 20 58 72
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q 20 58
Plectin-Related Limb-Girdle Muscular Dystrophy R17 20 58
Limb-Girdle Muscular Dystrophy, Type 2q 29 6
Limb-Girdle Muscular Dystrophy Type 2q 20 58
Plectin-Related Lgmd R17 20 58
Lgmd Type 2q 20 58
Lgmdr17 57 72
Autosomal Recessive Limb-Girdle Muscular Dystrophy Due to Plectin Deficiency 20
Muscular Dystrophy, Limb-Girdle, Type 2q; Lgmd2q 57
Limb-Girdle Muscular Dystrophy 2q 72

Characteristics:

Orphanet epidemiological data:

58
plectin-related limb-girdle muscular dystrophy r17
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

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

Miscellaneous:
onset in early childhood
rapid progression in adolescence
adults may lose ability to walk


HPO:

31
muscular dystrophy, limb-girdle, autosomal recessive 17:
Inheritance autosomal recessive inheritance
Onset and clinical course rapidly progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17

OMIM® : 57 Autosomal recessive limb-girdle muscular dystrophy-17 is characterized by early childhood onset of proximal muscle weakness and atrophy without skin involvement. One family has shown rapid progression of the disorder in adolescence (summary by Gundesli et al., 2010). For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600). (613723) (Updated 20-May-2021)

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17, also known as muscular dystrophy, limb-girdle, type 2q, is related to autosomal recessive limb-girdle muscular dystrophy type 2q and epidermolysis bullosa, and has symptoms including generalized muscle weakness An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 is PLEC (Plectin). Affiliated tissues include skeletal muscle, and related phenotypes are progressive proximal muscle weakness and skeletal muscle atrophy

UniProtKB/Swiss-Prot : 72 Muscular dystrophy, limb-girdle, autosomal recessive 17: A form of limb-girdle muscular dystrophy characterized by early childhood onset of proximal muscle weakness. Limb-girdle muscular dystrophies are characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy.

Related Diseases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z
Autosomal Dominant Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Limb-Girdle Muscular Dystrophy Type 1a Limb-Girdle Muscular Dystrophy Type 1b
Limb-Girdle Muscular Dystrophy Type 1c Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24

Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2q 11.5
2 epidermolysis bullosa 10.3
3 muscular dystrophy 10.3
4 limb-girdle muscular dystrophy 10.3

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17:

58 31 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive proximal muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0009073
2 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
3 elevated serum creatine kinase 58 31 frequent (33%) Frequent (79-30%) HP:0003236
4 emg: myopathic abnormalities 58 31 frequent (33%) Frequent (79-30%) HP:0003458
5 pelvic girdle muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003749
6 loss of ability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0006957
7 frequent falls 58 31 frequent (33%) Frequent (79-30%) HP:0002359
8 gowers sign 58 31 frequent (33%) Frequent (79-30%) HP:0003391
9 difficulty climbing stairs 58 31 frequent (33%) Frequent (79-30%) HP:0003551
10 axial muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0040287
11 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
12 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
13 achilles tendon contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0001771
14 areflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001284
15 nasal speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001611
16 distal lower limb muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0009053
17 generalized muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003324
18 calf muscle hypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008981
19 delayed gross motor development 58 31 occasional (7.5%) Occasional (29-5%) HP:0002194
20 bilateral ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001488
21 proximal upper limb muscle hypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0040266
22 bilateral facial palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0430025
23 increased lactate dehydrogenase level 31 occasional (7.5%) HP:0025435
24 pulmonary fibrosis 58 31 very rare (1%) Very rare (<4-1%) HP:0002206
25 decreased cervical spine flexion due to contractures of posterior cervical muscles 58 31 very rare (1%) Very rare (<4-1%) HP:0004631
26 atelectasis 58 31 very rare (1%) Very rare (<4-1%) HP:0100750
27 right bundle branch block 58 31 very rare (1%) Very rare (<4-1%) HP:0011712
28 exertional dyspnea 58 31 very rare (1%) Very rare (<4-1%) HP:0002875
29 bronchiolitis 58 31 very rare (1%) Very rare (<4-1%) HP:0011950
30 motor delay 58 31 Frequent (79-30%) HP:0001270
31 flexion contracture 31 HP:0001371
32 abnormality of the cardiovascular system 58 Very rare (<4-1%)
33 abnormality of the respiratory system 58 Very rare (<4-1%)
34 muscular dystrophy 31 HP:0003560
35 abnormality of the skin 58 Excluded (0%)
36 lumbar hyperlordosis 31 HP:0002938
37 acetylcholine receptor antibody positivity 58 Excluded (0%)
38 increased lactate dehydrogenase activity 58 Occasional (29-5%)
39 limb-girdle muscle weakness 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Muscle Soft Tissue:
generalized muscle weakness
proximal muscle weakness
gowers sign
muscle atrophy
muscular dystrophy, limb-girdle
more
Skeletal Spine:
lumbar lordosis

Skeletal:
contractures, late-onset

Neurologic Central Nervous System:
delayed motor development

Laboratory Abnormalities:
increased serum creatine kinase

Clinical features from OMIM®:

613723 (Updated 20-May-2021)

UMLS symptoms related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17:


generalized muscle weakness

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17

Genetic tests related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 2q 29 PLEC

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17:

40
Skeletal Muscle

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17

Articles related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17:

(show all 15)
# Title Authors PMID Year
1
Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. 57 6
21109228 2010
2
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 57
30055862 2018
3
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations. 6
23289980 2013
4
Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex. 6
20665883 2010
5
Plectin gene defects lead to various forms of epidermolysis bullosa simplex. 6
19945614 2010
6
Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. 6
15654962 2005
7
Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy. 6
10652002 2000
8
Basic amino acid residue cluster within nuclear targeting sequence motif is essential for cytoplasmic plectin-vimentin network junctions. 6
8830774 1996
9
Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy. 61
32576226 2020
10
[Research advances in limb-girdle muscular dystrophy type 2Q]. 61
31416513 2019
11
Novel compound heterozygous PLEC mutations lead to early‑onset limb‑girdle muscular dystrophy 2Q. 61
28447722 2017
12
Glu20Ter Variant in PLEC 1f Isoform Causes Limb-Girdle Muscle Dystrophy with Lung Injury. 61
28824526 2017
13
Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy. 61
25556389 2015
14
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). 61
24647604 2014
15
Genetic basis of limb-girdle muscular dystrophies: the 2014 update. 61
24843229 2014

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17:

6 (show top 50) (show all 2090)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PLEC NM_201378.4(PLEC):c.1_9del (p.Met1_Gly3del) Deletion Pathogenic 30171 rs864309673 GRCh37: 8:145047632-145047640
GRCh38: 8:143973464-143973472
2 PLEC NM_201384.3(PLEC):c.7504_7507del (p.Leu2502fs) Deletion Pathogenic 538947 rs1554689309 GRCh37: 8:144996482-144996485
GRCh38: 8:143922314-143922317
3 PLEC NM_201384.3(PLEC):c.8080_8084dup (p.Ser2696fs) Duplication Pathogenic 840189 GRCh37: 8:144995904-144995905
GRCh38: 8:143921736-143921737
4 PLEC NC_000008.10:g.(?_145008783)_(145018851_?)dup Duplication Likely pathogenic 658433 GRCh37: 8:145008783-145018851
GRCh38: 8:143934615-143944683
5 PLEC NM_201384.3(PLEC):c.9000_9001delinsTT (p.Gln3001Ter) Indel Likely pathogenic 499702 rs1554683108 GRCh37: 8:144994988-144994989
GRCh38: 8:143920820-143920821
6 PLEC NM_201384.3(PLEC):c.11350C>T (p.Gln3784Ter) SNV Likely pathogenic 538961 rs1554675388 GRCh37: 8:144992639-144992639
GRCh38: 8:143918471-143918471
7 PLEC NM_201384.3(PLEC):c.3261-1G>A SNV Likely pathogenic 577780 rs111730406 GRCh37: 8:145002161-145002161
GRCh38: 8:143927993-143927993
8 PLEC NM_201384.3(PLEC):c.1060C>T (p.Gln354Ter) SNV Likely pathogenic 417887 rs1060499581 GRCh37: 8:145008595-145008595
GRCh38: 8:143934427-143934427
9 PLEC NM_201384.3(PLEC):c.5414G>A (p.Arg1805His) SNV Uncertain significance 283241 rs782438887 GRCh37: 8:144998683-144998683
GRCh38: 8:143924515-143924515
10 PLEC NM_201384.3(PLEC):c.11926G>A (p.Val3976Ile) SNV Uncertain significance 471525 rs782422260 GRCh37: 8:144992063-144992063
GRCh38: 8:143917895-143917895
11 PLEC NM_201384.3(PLEC):c.7313G>A (p.Arg2438Gln) SNV Uncertain significance 471642 rs781835780 GRCh37: 8:144996784-144996784
GRCh38: 8:143922616-143922616
12 PLEC NM_201384.3(PLEC):c.4682G>A (p.Arg1561Gln) SNV Uncertain significance 289464 rs376840697 GRCh37: 8:144999415-144999415
GRCh38: 8:143925247-143925247
13 PLEC NM_201380.4(PLEC):c.149G>A (p.Arg50His) SNV Uncertain significance 266032 rs199505812 GRCh37: 8:145024726-145024726
GRCh38: 8:143950558-143950558
14 PLEC NM_201380.4(PLEC):c.413G>A (p.Arg138Gln) SNV Uncertain significance 266031 rs374484619 GRCh37: 8:145024462-145024462
GRCh38: 8:143950294-143950294
15 PLEC NM_201384.3(PLEC):c.6511A>G (p.Lys2171Glu) SNV Uncertain significance 816797 rs1554692271 GRCh37: 8:144997586-144997586
GRCh38: 8:143923418-143923418
16 PLEC NM_201384.3(PLEC):c.435+3A>T SNV Uncertain significance 931242 GRCh37: 8:145011144-145011144
GRCh38: 8:143936976-143936976
17 PLEC NM_201384.3(PLEC):c.1419-10G>T SNV Uncertain significance 992370 GRCh37: 8:145007289-145007289
GRCh38: 8:143933121-143933121
18 PLEC NM_201384.3(PLEC):c.11161C>T (p.Arg3721Cys) SNV Uncertain significance 288376 rs782134827 GRCh37: 8:144992828-144992828
GRCh38: 8:143918660-143918660
19 PLEC NM_201384.3(PLEC):c.4372C>T (p.Arg1458Cys) SNV Uncertain significance 1029849 GRCh37: 8:144999725-144999725
GRCh38: 8:143925557-143925557
20 PLEC NM_201384.3(PLEC):c.5390G>A (p.Arg1797His) SNV Uncertain significance 196720 rs782581787 GRCh37: 8:144998707-144998707
GRCh38: 8:143924539-143924539
21 PLEC NM_201384.3(PLEC):c.9874G>A (p.Val3292Met) SNV Uncertain significance 471680 rs782650325 GRCh37: 8:144994115-144994115
GRCh38: 8:143919947-143919947
22 PLEC NM_201384.3(PLEC):c.10322C>T (p.Ser3441Leu) SNV Uncertain significance 471514 rs782569204 GRCh37: 8:144993667-144993667
GRCh38: 8:143919499-143919499
23 PLEC NM_201384.3(PLEC):c.10130G>A (p.Arg3377Gln) SNV Uncertain significance 478626 rs375724891 GRCh37: 8:144993859-144993859
GRCh38: 8:143919691-143919691
24 PLEC NM_201384.3(PLEC):c.1721G>A (p.Arg574Gln) SNV Uncertain significance 471547 rs782426860 GRCh37: 8:145006977-145006977
GRCh38: 8:143932809-143932809
25 PLEC NM_201384.3(PLEC):c.3010G>A (p.Val1004Met) SNV Uncertain significance 282466 rs201782280 GRCh37: 8:145003653-145003653
GRCh38: 8:143929485-143929485
26 PLEC NM_201384.3(PLEC):c.4499G>A (p.Arg1500Gln) SNV Uncertain significance 471590 rs782344020 GRCh37: 8:144999598-144999598
GRCh38: 8:143925430-143925430
27 PLEC NM_201384.3(PLEC):c.13525A>G (p.Thr4509Ala) SNV Uncertain significance 471545 rs1554668550 GRCh37: 8:144990464-144990464
GRCh38: 8:143916296-143916296
28 PLEC NM_201384.3(PLEC):c.12907G>A (p.Val4303Met) SNV Uncertain significance 478589 rs200668859 GRCh37: 8:144991082-144991082
GRCh38: 8:143916914-143916914
29 PLEC NM_201384.3(PLEC):c.12671C>G (p.Ala4224Gly) SNV Uncertain significance 196847 rs368212208 GRCh37: 8:144991318-144991318
GRCh38: 8:143917150-143917150
30 PLEC NM_201384.3(PLEC):c.5044C>T (p.Gln1682Ter) SNV Uncertain significance 635339 rs1586920109 GRCh37: 8:144999053-144999053
GRCh38: 8:143924885-143924885
31 PLEC NM_201384.3(PLEC):c.2704G>A (p.Asp902Asn) SNV Uncertain significance 471559 rs199833127 GRCh37: 8:145004139-145004139
GRCh38: 8:143929971-143929971
32 PLEC NM_201384.3(PLEC):c.4855G>A (p.Glu1619Lys) SNV Uncertain significance 282493 rs782026068 GRCh37: 8:144999242-144999242
GRCh38: 8:143925074-143925074
33 PLEC NM_201384.3(PLEC):c.12401C>T (p.Ser4134Phe) SNV Uncertain significance 471530 rs782074353 GRCh37: 8:144991588-144991588
GRCh38: 8:143917420-143917420
34 PLEC NM_201384.3(PLEC):c.4771C>G (p.Gln1591Glu) SNV Uncertain significance 471595 rs782016001 GRCh37: 8:144999326-144999326
GRCh38: 8:143925158-143925158
35 PLEC NM_201384.3(PLEC):c.9247C>T (p.Arg3083Cys) SNV Uncertain significance 471671 rs201455467 GRCh37: 8:144994742-144994742
GRCh38: 8:143920574-143920574
36 PLEC NM_201384.3(PLEC):c.12406G>C (p.Val4136Leu) SNV Uncertain significance 478627 rs749212061 GRCh37: 8:144991583-144991583
GRCh38: 8:143917415-143917415
37 PLEC NM_201384.3(PLEC):c.8062G>A (p.Val2688Met) SNV Uncertain significance 471656 rs562229143 GRCh37: 8:144995927-144995927
GRCh38: 8:143921759-143921759
38 PLEC NM_201384.3(PLEC):c.6313_6314delinsAT (p.Ala2105Met) Indel Uncertain significance 281942 rs886044784 GRCh37: 8:144997783-144997784
GRCh38: 8:143923615-143923616
39 PLEC NM_201384.3(PLEC):c.8801C>T (p.Thr2934Met) SNV Uncertain significance 282308 rs368122904 GRCh37: 8:144995188-144995188
GRCh38: 8:143921020-143921020
40 PLEC NM_201384.3(PLEC):c.5850C>T (p.Arg1950=) SNV Uncertain significance 471616 rs782025214 GRCh37: 8:144998247-144998247
GRCh38: 8:143924079-143924079
41 PLEC NM_201384.3(PLEC):c.6841G>A (p.Ala2281Thr) SNV Uncertain significance 471637 rs200618217 GRCh37: 8:144997256-144997256
GRCh38: 8:143923088-143923088
42 PLEC NM_201384.3(PLEC):c.8371G>A (p.Ala2791Thr) SNV Uncertain significance 471661 rs529109624 GRCh37: 8:144995618-144995618
GRCh38: 8:143921450-143921450
43 PLEC NM_201384.3(PLEC):c.4526G>A (p.Arg1509His) SNV Uncertain significance 196762 rs782666455 GRCh37: 8:144999571-144999571
GRCh38: 8:143925403-143925403
44 PLEC NM_201384.3(PLEC):c.1471C>T (p.Arg491Trp) SNV Uncertain significance 478630 rs201001882 GRCh37: 8:145007227-145007227
GRCh38: 8:143933059-143933059
45 PLEC NM_201384.3(PLEC):c.2236C>T (p.Arg746Cys) SNV Uncertain significance 478592 rs782156696 GRCh37: 8:145005770-145005770
GRCh38: 8:143931602-143931602
46 PLEC NM_201384.3(PLEC):c.9529G>A (p.Asp3177Asn) SNV Uncertain significance 285079 rs151050583 GRCh37: 8:144994460-144994460
GRCh38: 8:143920292-143920292
47 PLEC NM_201384.3(PLEC):c.11137G>A (p.Gly3713Arg) SNV Uncertain significance 282185 rs202037264 GRCh37: 8:144992852-144992852
GRCh38: 8:143918684-143918684
48 PLEC NM_201384.3(PLEC):c.3485G>A (p.Arg1162Gln) SNV Uncertain significance 284248 rs368280705 GRCh37: 8:145001849-145001849
GRCh38: 8:143927681-143927681
49 PLEC NM_201384.3(PLEC):c.10007C>T (p.Thr3336Met) SNV Uncertain significance 471511 rs199950917 GRCh37: 8:144993982-144993982
GRCh38: 8:143919814-143919814
50 PLEC NM_201384.3(PLEC):c.2743C>T (p.Arg915Cys) SNV Uncertain significance 471561 rs376236283 GRCh37: 8:145003994-145003994
GRCh38: 8:143929826-143929826

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17:

72
# Symbol AA change Variation ID SNP ID
1 PLEC p.Gly3945Ser VAR_076565

Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17.

Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17

GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17

Sources for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17

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