LGMDR23
MCID: MSC189
MIFTS: 21

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

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare 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 58 76 6
Lgmdr23 58 76

Characteristics:

OMIM:

58
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:

33
muscular dystrophy, limb-girdle, autosomal recessive 23:
Onset and clinical course variable expressivity slow progression


Classifications:



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

OMIM : 58 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)

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23, is also known as lgmdr23. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 is LAMA2 (Laminin Subunit Alpha 2). Affiliated tissues include brain, and related phenotypes are seizures and gait disturbance

UniProtKB/Swiss-Prot : 76 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
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

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

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

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 seizures 33 very rare (1%) HP:0001250
2 gait disturbance 33 HP:0001288
3 motor delay 33 HP:0001270
4 areflexia 33 HP:0001284
5 gowers sign 33 HP:0003391
6 difficulty climbing stairs 33 HP:0003551
7 calf muscle hypertrophy 33 HP:0008981
8 muscle spasm 33 HP:0003394

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
muscle cramps
difficulty climbing stairs
calf hypertrophy
gait difficulties
gower sign
more
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

Neurologic Peripheral Nervous System:
areflexia
sensorimotor demyelinating neuropathy (in some patients)

Laboratory Abnormalities:
increased serum creatine kinase

Clinical features from OMIM:

618138

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

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

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

42
Brain

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

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

# Title Authors Year
1
Limb girdle muscular dystrophy due to LAMA2 mutations: diagnostic difficulties due to associated peripheral neuropathy. ( 24957499 )
2014
2
Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations. ( 21953594 )
2011

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

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

76
# Symbol AA change Variation ID SNP ID
1 LAMA2 p.Trp152Gly VAR_081611
2 LAMA2 p.Leu243Pro VAR_081613
3 LAMA2 p.Gly284Arg VAR_081615
4 LAMA2 p.Ala1496Val VAR_081627
5 LAMA2 p.Arg2477Ser VAR_081631

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

6 (show top 50) (show all 54)
# Gene Variation Type Significance SNP ID Assembly Location
1 LAMA2 NM_000426.3(LAMA2): c.7732C> T (p.Arg2578Ter) single nucleotide variant Pathogenic rs121913572 GRCh37 Chromosome 6, 129802567: 129802567
2 LAMA2 NM_000426.3(LAMA2): c.7732C> T (p.Arg2578Ter) single nucleotide variant Pathogenic rs121913572 GRCh38 Chromosome 6, 129481422: 129481422
3 LAMA2 NM_000426.3(LAMA2): c.3976C> T (p.Arg1326Ter) single nucleotide variant Pathogenic rs398123373 GRCh37 Chromosome 6, 129637234: 129637234
4 LAMA2 NM_000426.3(LAMA2): c.3976C> T (p.Arg1326Ter) single nucleotide variant Pathogenic rs398123373 GRCh38 Chromosome 6, 129316089: 129316089
5 LAMA2 NM_000426.3(LAMA2): c.3532G> A (p.Ala1178Thr) single nucleotide variant Uncertain significance rs34505698 GRCh38 Chromosome 6, 129314775: 129314775
6 LAMA2 NM_000426.3(LAMA2): c.3532G> A (p.Ala1178Thr) single nucleotide variant Uncertain significance rs34505698 GRCh37 Chromosome 6, 129635920: 129635920
7 LAMA2 NM_000426.3(LAMA2): c.4487C> T (p.Ala1496Val) single nucleotide variant Conflicting interpretations of pathogenicity rs147077184 GRCh37 Chromosome 6, 129670493: 129670493
8 LAMA2 NM_000426.3(LAMA2): c.4487C> T (p.Ala1496Val) single nucleotide variant Conflicting interpretations of pathogenicity rs147077184 GRCh38 Chromosome 6, 129349348: 129349348
9 LAMA2 NM_000426.3(LAMA2): c.4969G> A (p.Val1657Met) single nucleotide variant Uncertain significance rs370971334 GRCh37 Chromosome 6, 129704276: 129704276
10 LAMA2 NM_000426.3(LAMA2): c.4969G> A (p.Val1657Met) single nucleotide variant Uncertain significance rs370971334 GRCh38 Chromosome 6, 129383131: 129383131
11 LAMA2 NM_000426.3(LAMA2): c.6268+5G> C single nucleotide variant Uncertain significance rs182064878 GRCh37 Chromosome 6, 129762148: 129762148
12 LAMA2 NM_000426.3(LAMA2): c.6268+5G> C single nucleotide variant Uncertain significance rs182064878 GRCh38 Chromosome 6, 129441003: 129441003
13 LAMA2 NM_000426.3(LAMA2): c.5116C> T (p.Arg1706Ter) single nucleotide variant Pathogenic rs758775001 GRCh37 Chromosome 6, 129712680: 129712680
14 LAMA2 NM_000426.3(LAMA2): c.5116C> T (p.Arg1706Ter) single nucleotide variant Pathogenic rs758775001 GRCh38 Chromosome 6, 129391535: 129391535
15 LAMA2 NM_000426.3(LAMA2): c.7057C> T (p.Arg2353Cys) single nucleotide variant Uncertain significance rs145885540 GRCh38 Chromosome 6, 129464354: 129464354
16 LAMA2 NM_000426.3(LAMA2): c.7057C> T (p.Arg2353Cys) single nucleotide variant Uncertain significance rs145885540 GRCh37 Chromosome 6, 129785499: 129785499
17 LAMA2 NM_000426.3(LAMA2): c.4205G> A (p.Arg1402His) single nucleotide variant Uncertain significance rs144830879 GRCh38 Chromosome 6, 129328306: 129328306
18 LAMA2 NM_000426.3(LAMA2): c.4205G> A (p.Arg1402His) single nucleotide variant Uncertain significance rs144830879 GRCh37 Chromosome 6, 129649451: 129649451
19 LAMA2 NM_000426.3(LAMA2): c.9328G> A (p.Glu3110Lys) single nucleotide variant Uncertain significance rs140829166 GRCh38 Chromosome 6, 129516306: 129516306
20 LAMA2 NM_000426.3(LAMA2): c.9328G> A (p.Glu3110Lys) single nucleotide variant Uncertain significance rs140829166 GRCh37 Chromosome 6, 129837451: 129837451
21 LAMA2 NM_000426.3(LAMA2): c.3244C> T (p.His1082Tyr) single nucleotide variant Uncertain significance rs146490004 GRCh37 Chromosome 6, 129634075: 129634075
22 LAMA2 NM_000426.3(LAMA2): c.3244C> T (p.His1082Tyr) single nucleotide variant Uncertain significance rs146490004 GRCh38 Chromosome 6, 129312930: 129312930
23 LAMA2 NM_000426.3(LAMA2): c.7074C> A (p.Tyr2358Ter) single nucleotide variant Pathogenic/Likely pathogenic rs762806915 GRCh37 Chromosome 6, 129785516: 129785516
24 LAMA2 NM_000426.3(LAMA2): c.7074C> A (p.Tyr2358Ter) single nucleotide variant Pathogenic/Likely pathogenic rs762806915 GRCh38 Chromosome 6, 129464371: 129464371
25 LAMA2 NM_000426.3(LAMA2): c.8842G> A (p.Gly2948Ser) single nucleotide variant Uncertain significance rs143638361 GRCh37 Chromosome 6, 129828772: 129828772
26 LAMA2 NM_000426.3(LAMA2): c.8842G> A (p.Gly2948Ser) single nucleotide variant Uncertain significance rs143638361 GRCh38 Chromosome 6, 129507627: 129507627
27 LAMA2 NM_000426.3(LAMA2): c.7088C> T (p.Thr2363Ile) single nucleotide variant Uncertain significance rs371403343 GRCh38 Chromosome 6, 129464385: 129464385
28 LAMA2 NM_000426.3(LAMA2): c.7088C> T (p.Thr2363Ile) single nucleotide variant Uncertain significance rs371403343 GRCh37 Chromosome 6, 129785530: 129785530
29 LAMA2 NM_000426.3(LAMA2): c.7415G> T (p.Gly2472Val) single nucleotide variant Uncertain significance rs200921233 GRCh38 Chromosome 6, 129473328: 129473328
30 LAMA2 NM_000426.3(LAMA2): c.7415G> T (p.Gly2472Val) single nucleotide variant Uncertain significance rs200921233 GRCh37 Chromosome 6, 129794473: 129794473
31 LAMA2 NM_000426.3(LAMA2): c.8524A> G (p.Ile2842Val) single nucleotide variant Uncertain significance rs140178576 GRCh38 Chromosome 6, 129503257: 129503257
32 LAMA2 NM_000426.3(LAMA2): c.8524A> G (p.Ile2842Val) single nucleotide variant Uncertain significance rs140178576 GRCh37 Chromosome 6, 129824402: 129824402
33 LAMA2 NM_000426.3(LAMA2): c.2477G> A (p.Arg826Gln) single nucleotide variant Uncertain significance rs759973830 GRCh37 Chromosome 6, 129601232: 129601232
34 LAMA2 NM_000426.3(LAMA2): c.2477G> A (p.Arg826Gln) single nucleotide variant Uncertain significance rs759973830 GRCh38 Chromosome 6, 129280087: 129280087
35 LAMA2 NM_000426.3(LAMA2): c.8011C> A (p.Pro2671Thr) single nucleotide variant Uncertain significance rs780695627 GRCh37 Chromosome 6, 129813158: 129813158
36 LAMA2 NM_000426.3(LAMA2): c.8011C> A (p.Pro2671Thr) single nucleotide variant Uncertain significance rs780695627 GRCh38 Chromosome 6, 129492013: 129492013
37 LAMA2 NM_000426.3(LAMA2): c.946G> A (p.Asp316Asn) single nucleotide variant Uncertain significance rs141340479 GRCh37 Chromosome 6, 129470160: 129470160
38 LAMA2 NM_000426.3(LAMA2): c.946G> A (p.Asp316Asn) single nucleotide variant Uncertain significance rs141340479 GRCh38 Chromosome 6, 129149015: 129149015
39 LAMA2 NM_000426.3(LAMA2): c.5405G> T (p.Arg1802Leu) single nucleotide variant Uncertain significance rs141235562 GRCh38 Chromosome 6, 129393215: 129393215
40 LAMA2 NM_000426.3(LAMA2): c.5405G> T (p.Arg1802Leu) single nucleotide variant Uncertain significance rs141235562 GRCh37 Chromosome 6, 129714360: 129714360
41 LAMA2 NM_000426.3(LAMA2): c.3862G> A (p.Val1288Ile) single nucleotide variant Uncertain significance rs758134778 GRCh38 Chromosome 6, 129315888: 129315888
42 LAMA2 NM_000426.3(LAMA2): c.3862G> A (p.Val1288Ile) single nucleotide variant Uncertain significance rs758134778 GRCh37 Chromosome 6, 129637033: 129637033
43 LAMA2 NM_000426.3(LAMA2): c.8244+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs749522728 GRCh37 Chromosome 6, 129813629: 129813629
44 LAMA2 NM_000426.3(LAMA2): c.8244+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs749522728 GRCh38 Chromosome 6, 129492484: 129492484
45 LAMA2 NM_000426.3(LAMA2): c.4640C> T (p.Thr1547Met) single nucleotide variant Uncertain significance rs778106503 GRCh37 Chromosome 6, 129674425: 129674425
46 LAMA2 NM_000426.3(LAMA2): c.4640C> T (p.Thr1547Met) single nucleotide variant Uncertain significance rs778106503 GRCh38 Chromosome 6, 129353280: 129353280
47 LAMA2 NM_000426.3(LAMA2): c.9161C> A (p.Ala3054Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 129835690: 129835690
48 LAMA2 NM_000426.3(LAMA2): c.9161C> A (p.Ala3054Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 129514545: 129514545
49 LAMA2 NM_000426.3(LAMA2): c.728T> C (p.Leu243Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 129143989: 129143989
50 LAMA2 NM_000426.3(LAMA2): c.728T> C (p.Leu243Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 129465134: 129465134

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

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