LGMDR17
MCID: MSC183
MIFTS: 29

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

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare 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 58 76
Muscular Dystrophy, Limb-Girdle, Type 2q 58 54 76 13
Lgmd2q 58 54 60 76
Autosomal Recessive Limb-Girdle Muscular Dystrophy Due to Plectin Deficiency 54 60
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q 54 60
Limb-Girdle Muscular Dystrophy, Type 2q 30 6
Lgmdr17 58 76
Muscular Dystrophy, Limb-Girdle, Type 2q; Lgmd2q 58
Dystrophy, Muscular, Limb-Girdle, Type 2q 41
Limb-Girdle Muscular Dystrophy Type 2q 54
Limb-Girdle Muscular Dystrophy 2q 76

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive limb-girdle muscular dystrophy type 2q
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
muscular dystrophy, limb-girdle, autosomal recessive 17:
Onset and clinical course rapidly progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


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

OMIM : 58 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)

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 muscular dystrophy, 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 skin and skeletal muscle, and related phenotypes are generalized muscle weakness and skeletal muscle atrophy

UniProtKB/Swiss-Prot : 76 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
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

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 11.7
2 muscular dystrophy 10.4
3 limb-girdle muscular dystrophy 10.4

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

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

60 33 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized muscle weakness 60 33 Occasional (29-5%) HP:0003324
2 skeletal muscle atrophy 60 33 Frequent (79-30%) HP:0003202
3 motor delay 60 33 Frequent (79-30%) HP:0001270
4 gowers sign 60 33 Frequent (79-30%) HP:0003391
5 difficulty climbing stairs 60 33 Frequent (79-30%) HP:0003551
6 dysphagia 60 Occasional (29-5%)
7 global developmental delay 60 Occasional (29-5%)
8 flexion contracture 33 HP:0001371
9 pulmonary fibrosis 60 Very rare (<4-1%)
10 abnormality of the cardiovascular system 60 Very rare (<4-1%)
11 elevated serum creatine phosphokinase 60 Frequent (79-30%)
12 achilles tendon contracture 60 Occasional (29-5%)
13 emg: myopathic abnormalities 60 Frequent (79-30%)
14 decreased cervical spine flexion due to contractures of posterior cervical muscles 60 Very rare (<4-1%)
15 pelvic girdle muscle weakness 60 Frequent (79-30%)
16 nasal speech 60 Occasional (29-5%)
17 atelectasis 60 Very rare (<4-1%)
18 increased lactate dehydrogenase activity 60 Occasional (29-5%)
19 areflexia 60 Occasional (29-5%)
20 abnormality of the respiratory system 60 Very rare (<4-1%)
21 limb-girdle muscle weakness 60 Frequent (79-30%)
22 distal lower limb muscle weakness 60 Occasional (29-5%)
23 frequent falls 60 Frequent (79-30%)
24 progressive proximal muscle weakness 60 Very frequent (99-80%)
25 muscular dystrophy 33 HP:0003560
26 delayed gross motor development 60 Occasional (29-5%)
27 calf muscle hypertrophy 60 Occasional (29-5%)
28 abnormality of the skin 60 Excluded (0%)
29 right bundle branch block 60 Very rare (<4-1%)
30 exertional dyspnea 60 Very rare (<4-1%)
31 acetylcholine receptor antibody positivity 60 Excluded (0%)
32 lumbar hyperlordosis 33 HP:0002938
33 bilateral ptosis 60 Occasional (29-5%)
34 loss of ability to walk 60 Frequent (79-30%)
35 axial muscle atrophy 60 Frequent (79-30%)
36 proximal upper limb muscle hypertrophy 60 Occasional (29-5%)
37 bilateral facial palsy 60 Occasional (29-5%)
38 bronchiolitis 60 Very rare (<4-1%)
39 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
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

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


generalized muscle weakness

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search 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 30 PLEC

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

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

42
Skin, Skeletal Muscle

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

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

# Title Authors Year
1
Novel compound heterozygous PLEC mutations lead to early‑onset limb‑girdle muscular dystrophy 2Q. ( 28447722 )
2017
2
Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. ( 21109228 )
2010

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

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

76
# Symbol AA change Variation ID SNP ID
1 PLEC p.Gly3945Ser VAR_076565

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

6 (show top 50) (show all 1714)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLEC NM_201378.3(PLEC): c.1_9delATGGCCGGC (p.Met1_Gly3del) deletion Pathogenic rs864309673 GRCh37 Chromosome 8, 145047632: 145047640
2 PLEC NM_201378.3(PLEC): c.1_9delATGGCCGGC (p.Met1_Gly3del) deletion Pathogenic rs864309673 GRCh38 Chromosome 8, 143973464: 143973472
3 PLEC NM_000445.4(PLEC): c.10006C> T (p.Arg3336Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs77303974 GRCh37 Chromosome 8, 144994064: 144994064
4 PLEC NM_000445.4(PLEC): c.10006C> T (p.Arg3336Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs77303974 GRCh38 Chromosome 8, 143919896: 143919896
5 PLEC NM_000445.4(PLEC): c.10026C> T (p.Ser3342=) single nucleotide variant Benign rs28657061 GRCh37 Chromosome 8, 144994044: 144994044
6 PLEC NM_000445.4(PLEC): c.10026C> T (p.Ser3342=) single nucleotide variant Benign rs28657061 GRCh38 Chromosome 8, 143919876: 143919876
7 PLEC NM_000445.4(PLEC): c.10498G> A (p.Gly3500Ser) single nucleotide variant Uncertain significance rs201765507 GRCh37 Chromosome 8, 144993572: 144993572
8 PLEC NM_000445.4(PLEC): c.10498G> A (p.Gly3500Ser) single nucleotide variant Uncertain significance rs201765507 GRCh38 Chromosome 8, 143919404: 143919404
9 PLEC NM_000445.4(PLEC): c.10737G> A (p.Val3579=) single nucleotide variant Conflicting interpretations of pathogenicity rs368312695 GRCh37 Chromosome 8, 144993333: 144993333
10 PLEC NM_000445.4(PLEC): c.10737G> A (p.Val3579=) single nucleotide variant Conflicting interpretations of pathogenicity rs368312695 GRCh38 Chromosome 8, 143919165: 143919165
11 PLEC NM_000445.4(PLEC): c.10840C> T (p.Leu3614=) single nucleotide variant Conflicting interpretations of pathogenicity rs200006106 GRCh37 Chromosome 8, 144993230: 144993230
12 PLEC NM_000445.4(PLEC): c.10840C> T (p.Leu3614=) single nucleotide variant Conflicting interpretations of pathogenicity rs200006106 GRCh38 Chromosome 8, 143919062: 143919062
13 PLEC NM_000445.4(PLEC): c.12021C> T (p.Ile4007=) single nucleotide variant Benign rs148865812 GRCh37 Chromosome 8, 144992049: 144992049
14 PLEC NM_000445.4(PLEC): c.12021C> T (p.Ile4007=) single nucleotide variant Benign rs148865812 GRCh38 Chromosome 8, 143917881: 143917881
15 PLEC NM_000445.4(PLEC): c.12075C> T (p.Pro4025=) single nucleotide variant Conflicting interpretations of pathogenicity rs113137721 GRCh37 Chromosome 8, 144991995: 144991995
16 PLEC NM_000445.4(PLEC): c.12075C> T (p.Pro4025=) single nucleotide variant Conflicting interpretations of pathogenicity rs113137721 GRCh38 Chromosome 8, 143917827: 143917827
17 PLEC NM_000445.4(PLEC): c.12642C> T (p.Asp4214=) single nucleotide variant Benign rs11998271 GRCh37 Chromosome 8, 144991428: 144991428
18 PLEC NM_000445.4(PLEC): c.12642C> T (p.Asp4214=) single nucleotide variant Benign rs11998271 GRCh38 Chromosome 8, 143917260: 143917260
19 PLEC NM_000445.4(PLEC): c.12865G> A (p.Val4289Ile) single nucleotide variant Benign rs142946078 GRCh37 Chromosome 8, 144991205: 144991205
20 PLEC NM_000445.4(PLEC): c.12865G> A (p.Val4289Ile) single nucleotide variant Benign rs142946078 GRCh38 Chromosome 8, 143917037: 143917037
21 PLEC NM_000445.4(PLEC): c.13191C> T (p.Ala4397=) single nucleotide variant Benign rs187810163 GRCh37 Chromosome 8, 144990879: 144990879
22 PLEC NM_000445.4(PLEC): c.13191C> T (p.Ala4397=) single nucleotide variant Benign rs187810163 GRCh38 Chromosome 8, 143916711: 143916711
23 PLEC NM_000445.4(PLEC): c.13483G> A (p.Ala4495Thr) single nucleotide variant Benign/Likely benign rs112322162 GRCh37 Chromosome 8, 144990587: 144990587
24 PLEC NM_000445.4(PLEC): c.13483G> A (p.Ala4495Thr) single nucleotide variant Benign/Likely benign rs112322162 GRCh38 Chromosome 8, 143916419: 143916419
25 PLEC NM_000445.4(PLEC): c.1896+10G> A single nucleotide variant Benign rs398123396 GRCh37 Chromosome 8, 145006793: 145006793
26 PLEC NM_000445.4(PLEC): c.1896+10G> A single nucleotide variant Benign rs398123396 GRCh38 Chromosome 8, 143932625: 143932625
27 PLEC NM_000445.4(PLEC): c.2259+9C> G single nucleotide variant Benign rs114256617 GRCh37 Chromosome 8, 145006096: 145006096
28 PLEC NM_000445.4(PLEC): c.2259+9C> G single nucleotide variant Benign rs114256617 GRCh38 Chromosome 8, 143931928: 143931928
29 PLEC NM_000445.4(PLEC): c.2386-10delT deletion Benign/Likely benign rs142120912 GRCh37 Chromosome 8, 145004714: 145004714
30 PLEC NM_000445.4(PLEC): c.2386-10delT deletion Benign/Likely benign rs142120912 GRCh38 Chromosome 8, 143930546: 143930546
31 PLEC NM_000445.4(PLEC): c.3432C> T (p.Ala1144=) single nucleotide variant Benign rs145376880 GRCh37 Chromosome 8, 145002070: 145002070
32 PLEC NM_000445.4(PLEC): c.3432C> T (p.Ala1144=) single nucleotide variant Benign rs145376880 GRCh38 Chromosome 8, 143927902: 143927902
33 PLEC NM_000445.4(PLEC): c.3459G> A (p.Glu1153=) single nucleotide variant Benign rs11991764 GRCh37 Chromosome 8, 145002043: 145002043
34 PLEC NM_000445.4(PLEC): c.3459G> A (p.Glu1153=) single nucleotide variant Benign rs11991764 GRCh38 Chromosome 8, 143927875: 143927875
35 PLEC NM_000445.4(PLEC): c.3763C> T (p.Arg1255Trp) single nucleotide variant Benign rs144610086 GRCh37 Chromosome 8, 145001652: 145001652
36 PLEC NM_000445.4(PLEC): c.3763C> T (p.Arg1255Trp) single nucleotide variant Benign rs144610086 GRCh38 Chromosome 8, 143927484: 143927484
37 PLEC NM_000445.4(PLEC): c.3838-9A> G single nucleotide variant Benign/Likely benign rs57461687 GRCh37 Chromosome 8, 145001512: 145001512
38 PLEC NM_000445.4(PLEC): c.3838-9A> G single nucleotide variant Benign/Likely benign rs57461687 GRCh38 Chromosome 8, 143927344: 143927344
39 PLEC NM_000445.4(PLEC): c.4637C> T (p.Ser1546Leu) single nucleotide variant Benign/Likely benign rs182120395 GRCh37 Chromosome 8, 144999541: 144999541
40 PLEC NM_000445.4(PLEC): c.4637C> T (p.Ser1546Leu) single nucleotide variant Benign/Likely benign rs182120395 GRCh38 Chromosome 8, 143925373: 143925373
41 PLEC NM_000445.4(PLEC): c.4638G> A (p.Ser1546=) single nucleotide variant Benign rs79705634 GRCh37 Chromosome 8, 144999540: 144999540
42 PLEC NM_000445.4(PLEC): c.4638G> A (p.Ser1546=) single nucleotide variant Benign rs79705634 GRCh38 Chromosome 8, 143925372: 143925372
43 PLEC NM_000445.4(PLEC): c.4725G> A (p.Ala1575=) single nucleotide variant Benign/Likely benign rs62642470 GRCh37 Chromosome 8, 144999453: 144999453
44 PLEC NM_000445.4(PLEC): c.4725G> A (p.Ala1575=) single nucleotide variant Benign/Likely benign rs62642470 GRCh38 Chromosome 8, 143925285: 143925285
45 PLEC NM_000445.4(PLEC): c.5163G> A (p.Leu1721=) single nucleotide variant Benign/Likely benign rs182961574 GRCh37 Chromosome 8, 144999015: 144999015
46 PLEC NM_000445.4(PLEC): c.5163G> A (p.Leu1721=) single nucleotide variant Benign/Likely benign rs182961574 GRCh38 Chromosome 8, 143924847: 143924847
47 PLEC NM_000445.4(PLEC): c.5246C> T (p.Thr1749Met) single nucleotide variant Benign/Likely benign rs377665141 GRCh37 Chromosome 8, 144998932: 144998932
48 PLEC NM_000445.4(PLEC): c.5246C> T (p.Thr1749Met) single nucleotide variant Benign/Likely benign rs377665141 GRCh38 Chromosome 8, 143924764: 143924764
49 PLEC NM_000445.4(PLEC): c.5310G> A (p.Ala1770=) single nucleotide variant Benign/Likely benign rs140406501 GRCh37 Chromosome 8, 144998868: 144998868
50 PLEC NM_000445.4(PLEC): c.5310G> A (p.Ala1770=) single nucleotide variant Benign/Likely benign rs140406501 GRCh38 Chromosome 8, 143924700: 143924700

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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