MCID: LMB036
MIFTS: 20

Limb-Girdle Muscular Dystrophy Type 2i malady

Genetic diseases, Muscle diseases, Rare diseases, Neuronal diseases categories

Summaries for Limb-Girdle Muscular Dystrophy Type 2i

About this section
Sources:
34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
MalaCards: Limb-Girdle Muscular Dystrophy Type 2i, also known as muscular dystrophy, limb-girdle, type 2i, is related to limb-girdle muscular dystrophy and muscular dystrophy. An important gene associated with Limb-Girdle Muscular Dystrophy Type 2i is FKRP (fukutin related protein). Affiliated tissues include skeletal muscle.

Aliases & Classifications for Limb-Girdle Muscular Dystrophy Type 2i

About this section
Sources:
21GeneTests, 63UMLS
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Muscle diseases, Neuronal diseases


Aliases & Descriptions:

limb-girdle muscular dystrophy type 2i 21
muscular dystrophy, limb-girdle, type 2i 63


Related Diseases for Limb-Girdle Muscular Dystrophy Type 2i

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

Symptoms for Limb-Girdle Muscular Dystrophy Type 2i

About this section

Drugs & Therapeutics for Limb-Girdle Muscular Dystrophy Type 2i

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Limb-Girdle Muscular Dystrophy Type 2i

Drug clinical trials:

Search ClinicalTrials for Limb-Girdle Muscular Dystrophy Type 2i

Search NIH Clinical Center for Limb-Girdle Muscular Dystrophy Type 2i

Search CenterWatch for Limb-Girdle Muscular Dystrophy Type 2i

Genetic Tests for Limb-Girdle Muscular Dystrophy Type 2i

About this section
Sources:
21GeneTests
See all sources

Genetic tests related to Limb-Girdle Muscular Dystrophy Type 2i:

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy Type 2i21

Anatomical Context for Limb-Girdle Muscular Dystrophy Type 2i

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Limb-Girdle Muscular Dystrophy Type 2i:

34
Skeletal muscle

Animal Models for Limb-Girdle Muscular Dystrophy Type 2i or affiliated genes

About this section

Publications for Limb-Girdle Muscular Dystrophy Type 2i

About this section
Sources:
53PubMed
See all sources

Articles related to Limb-Girdle Muscular Dystrophy Type 2i:

(show all 12)
idTitleAuthorsYear
1
Protein turnover and cellular stress in mildly and severely affected muscles from patients with limb girdle muscular dystrophy type 2I. (23840556)
2013
2
Limb-girdle muscular dystrophy type 2I is not rare in Taiwan. (23800702)
2013
3
Inflammatory Changes in Limb Girdle Muscular Dystrophy Type 2I. (24257234)
2013
4
Level of muscle regeneration in limb-girdle muscular dystrophy type 2I relates to genotype and clinical severity. (21970816)
2011
5
Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I. (19705481)
2009
6
Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients. (19917824)
2009
7
High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. (16634037)
2006
8
Limb girdle muscular dystrophy type 2I caused by a novel missense mutation in the FKRP gene presenting as acute virus-associated myositis in infancy. (16143867)
2006
9
The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations. (15580560)
2005
10
Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I. (16344347)
2005
11
The clinical spectrum of limb-girdle muscular dystrophies type 2I in cases of a mutation in the "fukutin-related- protein"-gene]. (15221067)
2004
12
The phenotype of limb-girdle muscular dystrophy type 2I. (12707425)
2003

Variations for Limb-Girdle Muscular Dystrophy Type 2i

About this section

Expression for genes affiliated with Limb-Girdle Muscular Dystrophy Type 2i

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Limb-Girdle Muscular Dystrophy Type 2i

Search GEO for disease gene expression data for Limb-Girdle Muscular Dystrophy Type 2i.

Pathways for genes affiliated with Limb-Girdle Muscular Dystrophy Type 2i

About this section

Compounds for genes affiliated with Limb-Girdle Muscular Dystrophy Type 2i

About this section

GO Terms for genes affiliated with Limb-Girdle Muscular Dystrophy Type 2i

About this section

Products for genes affiliated with Limb-Girdle Muscular Dystrophy Type 2i

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Limb-Girdle Muscular Dystrophy Type 2i

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet