LGMDR23
MCID: MSC189
MIFTS: 31

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 (LGMDR23)

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

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23:

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 57 72 29 6
Lgmdr23 57 72
Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 23 39

Characteristics:

OMIM®:

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

Miscellaneous:
variable severity
slowly progressive
variable age at onset (range childhood to adult)
patients remain ambulatory
onset after walking is achieved


HPO:

31
muscular dystrophy, limb-girdle, autosomal recessive 23:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset adult onset slow progression childhood onset


Classifications:



Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23

OMIM® : 57 Autosomal recessive limb-girdle muscular dystrophy-23 is characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs and resulting in gait difficulties. Age at onset generally ranges from childhood to mid-adulthood. Additional features include white matter abnormalities on brain imaging, increased serum creatine kinase, and dystrophic features, with partial LAMA2 deficiency on muscle biopsy. Some patients may have additional neurologic features, including executive deficits, seizures, and peripheral neuropathy. Patients remain ambulatory well into adulthood (summary by Gavassini et al., 2011 and Chan et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600). (618138) (Updated 20-May-2021)

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23, also known as lgmdr23, is related to muscular dystrophy, limb-girdle, autosomal recessive 2 and muscular dystrophy. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 is LAMA2 (Laminin Subunit Alpha 2). Affiliated tissues include skeletal muscle and brain, and related phenotypes are kyphosis and decreased nerve conduction velocity

UniProtKB/Swiss-Prot : 72 Muscular dystrophy, limb-girdle, autosomal recessive 23: A form of autosomal recessive limb-girdle muscular dystrophy, a myopathy characterized by proximal and/or distal muscle weakness and atrophy. The age at onset is variable and can range from the first to the sixth decade, although later onset is less common. LGMDR23 is characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs, increased serum creatine kinase, dystrophic features, gait difficulties, and white matter abnormalities on brain imaging. Age at onset generally ranges from childhood to mid- adulthood. Some patients may have additional neurologic features, including executive deficits, seizures, and peripheral neuropathy.

Related Diseases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23

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 23 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 2 9.7 TRAPPC11 LAMA2
2 muscular dystrophy 9.7 TRAPPC11 LAMA2
3 autosomal recessive limb-girdle muscular dystrophy 9.7 TRAPPC11 LAMA2
4 limb-girdle muscular dystrophy 9.7 TRAPPC11 LAMA2
5 muscular dystrophy, congenital, lmna-related 9.7 TRAPPC11 LAMA2
6 walker-warburg syndrome 9.6 TRAPPC11 LAMA2
7 congenital myasthenic syndrome 9.6 TRAPPC11 LAMA2
8 myopathy 9.5 TRAPPC11 LAMA2

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23:



Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 kyphosis 31 very rare (1%) HP:0002808
2 decreased nerve conduction velocity 31 very rare (1%) HP:0000762
3 elevated serum creatine kinase 31 very rare (1%) HP:0003236
4 waddling gait 31 very rare (1%) HP:0002515
5 elbow flexion contracture 31 very rare (1%) HP:0002987
6 proximal muscle weakness in lower limbs 31 very rare (1%) HP:0008994
7 proximal muscle weakness in upper limbs 31 very rare (1%) HP:0008997
8 areflexia 31 very rare (1%) HP:0001284
9 calf muscle hypertrophy 31 very rare (1%) HP:0008981
10 abnormality of the cerebral white matter 31 very rare (1%) HP:0002500
11 increased variability in muscle fiber diameter 31 very rare (1%) HP:0003557
12 sensorimotor neuropathy 31 very rare (1%) HP:0007141
13 gowers sign 31 very rare (1%) HP:0003391
14 difficulty climbing stairs 31 very rare (1%) HP:0003551
15 neck flexor weakness 31 very rare (1%) HP:0003722
16 difficulty running 31 very rare (1%) HP:0009046
17 internally nucleated skeletal muscle fibers 31 very rare (1%) HP:0031237
18 axonal degeneration 31 very rare (1%) HP:0040078
19 exercise-induced muscle cramps 31 very rare (1%) HP:0003710
20 delayed ability to walk 31 very rare (1%) HP:0031936
21 seizure 31 very rare (1%) HP:0001250
22 muscle spasm 31 HP:0003394

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Peripheral Nervous System:
areflexia
sensorimotor demyelinating neuropathy (in some patients)

Neurologic Central Nervous System:
delayed motor development
seizures (in some patients)
executive deficits (in some patients)
white matter abnormalities seen on brain imaging

Head And Neck Neck:
neck weakness

Muscle Soft Tissue:
gowers sign
difficulty climbing stairs
muscle cramps
calf hypertrophy
gait difficulties
more
Laboratory Abnormalities:
increased serum creatine kinase

Clinical features from OMIM®:

618138 (Updated 20-May-2021)

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23

Genetic tests related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23:

# Genetic test Affiliating Genes
1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 29 LAMA2

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23:

40
Skeletal Muscle, Brain

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23

Articles related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23:

# Title Authors PMID Year
1
Limb girdle muscular dystrophy due to LAMA2 mutations: diagnostic difficulties due to associated peripheral neuropathy. 6 57
24957499 2014
2
Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations. 6 57
21953594 2011
3
Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein. 6
31575891 2019
4
LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes. 57
30055037 2018
5
LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies. 57
25663498 2015
6
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. 6
23830518 2013

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23:

6 (show top 50) (show all 108)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRAPPC11 NM_021942.6(TRAPPC11):c.1287+5G>A SNV Pathogenic 60511 rs397509418 GRCh37: 4:184605212-184605212
GRCh38: 4:183684059-183684059
2 LAMA2 NM_000426.3(LAMA2):c.728T>C (p.Leu243Pro) SNV Pathogenic 585011 rs1562273395 GRCh37: 6:129465134-129465134
GRCh38: 6:129143989-129143989
3 LAMA2 NM_000426.3(LAMA2):c.4860+2delinsGGCC Indel Pathogenic 585012 rs1562497781 GRCh37: 6:129687508-129687508
GRCh38: 6:129366363-129366363
4 LAMA2 NM_000426.3(LAMA2):c.391C>T (p.Gln131Ter) SNV Pathogenic 585013 rs1562200866 GRCh37: 6:129381036-129381036
GRCh38: 6:129059891-129059891
5 LAMA2 NM_000426.3(LAMA2):c.4487C>T (p.Ala1496Val) SNV Pathogenic 196660 rs147077184 GRCh37: 6:129670493-129670493
GRCh38: 6:129349348-129349348
6 LAMA2 NM_000426.4(LAMA2):c.3976C>T SNV Pathogenic 92956 rs398123373 GRCh37: 6:129637234-129637234
GRCh38: 6:129316089-129316089
7 LAMA2 NM_000426.3(LAMA2):c.5116C>T (p.Arg1706Ter) SNV Pathogenic 287913 rs758775001 GRCh37: 6:129712680-129712680
GRCh38: 6:129391535-129391535
8 LAMA2 NM_000426.3(LAMA2):c.7074C>A (p.Tyr2358Ter) SNV Pathogenic 431964 rs762806915 GRCh37: 6:129785516-129785516
GRCh38: 6:129464371-129464371
9 LAMA2 NM_000426.4(LAMA2):c.7732C>T SNV Pathogenic 14296 rs121913572 GRCh37: 6:129802567-129802567
GRCh38: 6:129481422-129481422
10 LAMA2 NM_001079823.2(LAMA2):c.4959+1del Deletion Pathogenic 689487 rs1583591577 GRCh37: 6:129691134-129691134
GRCh38: 6:129369989-129369989
11 LAMA2 NM_000426.3(LAMA2):c.3924+2T>C SNV Pathogenic 447685 rs1554269966 GRCh37: 6:129637097-129637097
GRCh38: 6:129315952-129315952
12 LAMA2 NM_000426.3(LAMA2):c.1467+2T>C SNV Likely pathogenic 554368 rs1554234163 GRCh37: 6:129499013-129499013
GRCh38: 6:129177868-129177868
13 LAMA2 NM_000426.3(LAMA2):c.7750-2A>G SNV Likely pathogenic 689499 rs778539477 GRCh37: 6:129807617-129807617
GRCh38: 6:129486472-129486472
14 LAMA2 NM_000426.3(LAMA2):c.7521dup (p.Ile2508fs) Duplication Likely pathogenic 637036 rs1583845651 GRCh37: 6:129799906-129799907
GRCh38: 6:129478761-129478762
15 LAMA2 NM_000426.3(LAMA2):c.8244+1G>A SNV Likely pathogenic 550992 rs749522728 GRCh37: 6:129813629-129813629
GRCh38: 6:129492484-129492484
16 TRAPPC11 NM_021942.6(TRAPPC11):c.3379_3380insT (p.Asp1127fs) Insertion Likely pathogenic 977152 GRCh37: 4:184633774-184633775
GRCh38: 4:183712621-183712622
17 LAMA2 NM_000426.4(LAMA2):c.190G>T (p.Glu64Ter) SNV Likely pathogenic 983618 GRCh37: 6:129371140-129371140
GRCh38: 6:129049995-129049995
18 LAMA2 NM_000426.4(LAMA2):c.198C>A (p.Tyr66Ter) SNV Likely pathogenic 983619 GRCh37: 6:129371148-129371148
GRCh38: 6:129050003-129050003
19 LAMA2 NM_000426.4(LAMA2):c.424A>T (p.Lys142Ter) SNV Likely pathogenic 983620 GRCh37: 6:129419345-129419345
GRCh38: 6:129098200-129098200
20 LAMA2 NM_000426.4(LAMA2):c.504T>A (p.Tyr168Ter) SNV Likely pathogenic 983621 GRCh37: 6:129419425-129419425
GRCh38: 6:129098280-129098280
21 LAMA2 NM_000426.4(LAMA2):c.569C>A (p.Ser190Ter) SNV Likely pathogenic 983622 GRCh37: 6:129419490-129419490
GRCh38: 6:129098345-129098345
22 LAMA2 NM_000426.4(LAMA2):c.2719G>T (p.Gly907Ter) SNV Likely pathogenic 983631 GRCh37: 6:129609173-129609173
GRCh38: 6:129288028-129288028
23 LAMA2 NM_000426.4(LAMA2):c.2950C>T (p.Gln984Ter) SNV Likely pathogenic 983632 GRCh37: 6:129618923-129618923
GRCh38: 6:129297778-129297778
24 LAMA2 NM_000426.4(LAMA2):c.2957G>A (p.Trp986Ter) SNV Likely pathogenic 983633 GRCh37: 6:129618930-129618930
GRCh38: 6:129297785-129297785
25 LAMA2 NM_000426.4(LAMA2):c.2968G>T (p.Gly990Ter) SNV Likely pathogenic 983634 GRCh37: 6:129618941-129618941
GRCh38: 6:129297796-129297796
26 LAMA2 NM_000426.4(LAMA2):c.3019C>T (p.Gln1007Ter) SNV Likely pathogenic 983635 GRCh37: 6:129618992-129618992
GRCh38: 6:129297847-129297847
27 LAMA2 NM_000426.4(LAMA2):c.3123T>A (p.Cys1041Ter) SNV Likely pathogenic 983636 GRCh37: 6:129621966-129621966
GRCh38: 6:129300821-129300821
28 LAMA2 NM_000426.4(LAMA2):c.3172A>T (p.Lys1058Ter) SNV Likely pathogenic 809993 rs1583447808 GRCh37: 6:129622015-129622015
GRCh38: 6:129300870-129300870
29 LAMA2 NM_000426.4(LAMA2):c.3243T>A (p.Cys1081Ter) SNV Likely pathogenic 983637 GRCh37: 6:129634074-129634074
GRCh38: 6:129312929-129312929
30 LAMA2 NM_000426.4(LAMA2):c.7266G>A (p.Trp2422Ter) SNV Likely pathogenic 983646 GRCh37: 6:129786400-129786400
GRCh38: 6:129465255-129465255
31 LAMA2 NM_000426.4(LAMA2):c.7283C>G (p.Ser2428Ter) SNV Likely pathogenic 983647 GRCh37: 6:129786417-129786417
GRCh38: 6:129465272-129465272
32 LAMA2 NM_000426.4(LAMA2):c.7339G>T (p.Glu2447Ter) SNV Likely pathogenic 983648 GRCh37: 6:129794397-129794397
GRCh38: 6:129473252-129473252
33 LAMA2 NM_000426.4(LAMA2):c.7912C>T (p.Gln2638Ter) SNV Likely pathogenic 983649 GRCh37: 6:129813059-129813059
GRCh38: 6:129491914-129491914
34 LAMA2 NM_000426.4(LAMA2):c.8008C>T (p.Gln2670Ter) SNV Likely pathogenic 983650 GRCh37: 6:129813155-129813155
GRCh38: 6:129492010-129492010
35 LAMA2 NM_000426.4(LAMA2):c.8188C>T (p.Gln2730Ter) SNV Likely pathogenic 983651 GRCh37: 6:129813572-129813572
GRCh38: 6:129492427-129492427
36 LAMA2 NM_000426.4(LAMA2):c.8536C>T (p.Gln2846Ter) SNV Likely pathogenic 983652 GRCh37: 6:129824414-129824414
GRCh38: 6:129503269-129503269
37 LAMA2 NM_000426.4(LAMA2):c.8770C>T (p.Gln2924Ter) SNV Likely pathogenic 983653 GRCh37: 6:129828700-129828700
GRCh38: 6:129507555-129507555
38 LAMA2 NM_000426.4(LAMA2):c.602C>A (p.Ser201Ter) SNV Likely pathogenic 983903 GRCh37: 6:129419523-129419523
GRCh38: 6:129098378-129098378
39 LAMA2 NM_000426.4(LAMA2):c.637G>T (p.Glu213Ter) SNV Likely pathogenic 983904 GRCh37: 6:129419558-129419558
GRCh38: 6:129098413-129098413
40 LAMA2 NM_000426.4(LAMA2):c.691G>T (p.Glu231Ter) SNV Likely pathogenic 983905 GRCh37: 6:129465097-129465097
GRCh38: 6:129143952-129143952
41 LAMA2 NM_000426.4(LAMA2):c.781A>T (p.Lys261Ter) SNV Likely pathogenic 983906 GRCh37: 6:129465187-129465187
GRCh38: 6:129144042-129144042
42 LAMA2 NM_000426.4(LAMA2):c.790A>T (p.Arg264Ter) SNV Likely pathogenic 983907 GRCh37: 6:129465196-129465196
GRCh38: 6:129144051-129144051
43 LAMA2 NM_000426.4(LAMA2):c.1051G>T (p.Glu351Ter) SNV Likely pathogenic 983908 GRCh37: 6:129475673-129475673
GRCh38: 6:129154528-129154528
44 LAMA2 NM_000426.4(LAMA2):c.1065T>A (p.Tyr355Ter) SNV Likely pathogenic 983909 GRCh37: 6:129475687-129475687
GRCh38: 6:129154542-129154542
45 LAMA2 NM_000426.3(LAMA2):c.1084A>T (p.Arg362Ter) SNV Likely pathogenic 631971 rs191912891 GRCh37: 6:129475706-129475706
GRCh38: 6:129154561-129154561
46 LAMA2 NM_000426.4(LAMA2):c.3270T>A (p.Cys1090Ter) SNV Likely pathogenic 983918 GRCh37: 6:129634101-129634101
GRCh38: 6:129312956-129312956
47 LAMA2 NM_000426.4(LAMA2):c.3444C>A (p.Cys1148Ter) SNV Likely pathogenic 983919 GRCh37: 6:129635832-129635832
GRCh38: 6:129314687-129314687
48 LAMA2 NM_000426.4(LAMA2):c.3454A>T (p.Lys1152Ter) SNV Likely pathogenic 983920 GRCh37: 6:129635842-129635842
GRCh38: 6:129314697-129314697
49 LAMA2 NM_000426.4(LAMA2):c.3704G>A (p.Trp1235Ter) SNV Likely pathogenic 983921 GRCh37: 6:129636769-129636769
GRCh38: 6:129315624-129315624
50 LAMA2 NM_000426.4(LAMA2):c.4140T>A (p.Cys1380Ter) SNV Likely pathogenic 983922 GRCh37: 6:129641764-129641764
GRCh38: 6:129320619-129320619

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23:

72
# Symbol AA change Variation ID SNP ID
1 LAMA2 p.Trp152Gly VAR_081611
2 LAMA2 p.Leu243Pro VAR_081613 rs156227339
3 LAMA2 p.Gly284Arg VAR_081615
4 LAMA2 p.Ala1496Val VAR_081627 rs147077184
5 LAMA2 p.Arg2477Ser VAR_081631 rs34367843

Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23.

Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23

GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23

Sources for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
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19 FMA
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28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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49 NCI
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
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71 UMLS via Orphanet
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