MCID: LMB036
MIFTS: 19

Limb-Girdle Muscular Dystrophy Type 2i malady

Genetic diseases, Muscle diseases, Rare diseases, Neuronal diseases categories
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Summaries for Limb-Girdle Muscular Dystrophy Type 2i

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MalaCards based summary: Limb-Girdle Muscular Dystrophy 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

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Limb-Girdle Muscular Dystrophy Type 2i, Aliases & Descriptions:

Name: Limb-Girdle Muscular Dystrophy Type 2i 30 20


Classifications:

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


Related Diseases for Limb-Girdle Muscular Dystrophy Type 2i

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Symptoms for Limb-Girdle Muscular Dystrophy Type 2i

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

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Drug clinical trials:

Search ClinicalTrials for Limb-Girdle Muscular Dystrophy Type 2i

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

Genetic Tests for Limb-Girdle Muscular Dystrophy Type 2i

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

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy Type 2i20

Anatomical Context for Limb-Girdle Muscular Dystrophy Type 2i

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

32
Skeletal muscle

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

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Publications for Limb-Girdle Muscular Dystrophy Type 2i

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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

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

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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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates

Sources for Limb-Girdle Muscular Dystrophy Type 2i

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet