MCID: LMB073
MIFTS: 20

Limb-Girdle Muscular Dystrophy Type 1a

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

Aliases & Classifications for Limb-Girdle Muscular Dystrophy Type 1a

MalaCards integrated aliases for Limb-Girdle Muscular Dystrophy Type 1a:

Name: Limb-Girdle Muscular Dystrophy Type 1a 54
Lgmd1a 54 56
Muscular Dystrophy, Proximal, Type 1a 54
Lgmd1 54

Classifications:



Summaries for Limb-Girdle Muscular Dystrophy Type 1a

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 266Disease definitionAutosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.Visit the Orphanet disease page for more resources.

MalaCards based summary : Limb-Girdle Muscular Dystrophy Type 1a, also known as lgmd1a, is related to myopathy, myofibrillar, 3 and muscular dystrophy. An important gene associated with Limb-Girdle Muscular Dystrophy Type 1a is MYOT (Myotilin). Affiliated tissues include myeloid.

Related Diseases for Limb-Girdle Muscular Dystrophy Type 1a

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 Limb-Girdle Muscular Dystrophy Type 1a via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 myopathy, myofibrillar, 3 12.2
2 muscular dystrophy 10.6
3 limb-girdle muscular dystrophy 10.6
4 bethlem myopathy 1 10.3
5 myopathy 10.3
6 leukemia, acute myeloid 10.0
7 leukemia 10.0
8 muscle disorders 10.0
9 myeloid leukemia 10.0

Graphical network of the top 20 diseases related to Limb-Girdle Muscular Dystrophy Type 1a:



Diseases related to Limb-Girdle Muscular Dystrophy Type 1a

Symptoms & Phenotypes for Limb-Girdle Muscular Dystrophy Type 1a

Drugs & Therapeutics for Limb-Girdle Muscular Dystrophy Type 1a

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 Limb-Girdle Muscular Dystrophy Type 1a

Genetic Tests for Limb-Girdle Muscular Dystrophy Type 1a

Anatomical Context for Limb-Girdle Muscular Dystrophy Type 1a

MalaCards organs/tissues related to Limb-Girdle Muscular Dystrophy Type 1a:

42
Myeloid

Publications for Limb-Girdle Muscular Dystrophy Type 1a

Articles related to Limb-Girdle Muscular Dystrophy Type 1a:

(show all 12)
# Title Authors Year
1
RNAi-mediated Gene Silencing of Mutant Myotilin Improves Myopathy in LGMD1A Mice. ( 24781192 )
2014
2
A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A). ( 21336781 )
2011
3
Myotilin overexpression enhances myopathology in the LGMD1A mouse model. ( 18335471 )
2008
4
Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM. ( 16801328 )
2006
5
Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly. ( 12499399 )
2003
6
Beyond LGMD1A: myotilin is a component of central core lesions and nemaline rods. ( 12899871 )
2003
7
myotilin Mutation found in second pedigree with LGMD1A. ( 12428213 )
2002
8
Developmental expression of myotilin, a gene mutated in limb-girdle muscular dystrophy type 1A. ( 11335118 )
2001
9
A radiation hybrid breakpoint map of the acute myeloid leukemia (AML) and limb-girdle muscular dystrophy 1A (LGMD1A) regions of chromosome 5q31 localizing 122 expressed sequences. ( 10191080 )
1999
10
Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31. ( 9828127 )
1998
11
Bethlem myopathy is not allelic to limb-girdle muscular dystrophy type 1A. ( 8533815 )
1995
12
Development of a microsatellite genetic map spanning 5q31-q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9. ( 7881291 )
1994

Variations for Limb-Girdle Muscular Dystrophy Type 1a

Expression for Limb-Girdle Muscular Dystrophy Type 1a

Search GEO for disease gene expression data for Limb-Girdle Muscular Dystrophy Type 1a.

Pathways for Limb-Girdle Muscular Dystrophy Type 1a

GO Terms for Limb-Girdle Muscular Dystrophy Type 1a

Sources for Limb-Girdle Muscular Dystrophy Type 1a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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