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type 2C Limb-girdle muscular dystrophy

Also Known As:
Limb-girdle muscular dystrophy, type 2C; Adhalin deficiency, secondary; Duchenne-like muscular dystrophy, autosomal recessive, type 1; Gamma-sarcoglycanopathy; LGMD2C; Limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency; Maghrebian myopathy; Muscular Dystrophy, Limb-Girdle, Type 2C; Muscular dystrophy, Duchenne-like; SCARMD; Severe childhood autosomal recessive muscular dystrophy, North African type
Networked: 85 relevant articles (1 outcomes, 4 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Muscular Dystrophies (Muscular Dystrophy)
2. Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
3. Dysferlinopathy
4. Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
5. Sarcoglycanopathies

Experts

1. Yokota, Toshifumi: 3 articles (10/2019 - 01/2018)
2. Demonbreun, Alexis R: 2 articles (11/2019 - 01/2018)
3. McNally, Elizabeth M: 2 articles (11/2019 - 01/2018)
4. Wyatt, Eugene J: 2 articles (11/2019 - 01/2018)
5. Maruyama, Rika: 2 articles (01/2018 - 01/2018)
6. Richard, Isabelle: 2 articles (02/2013 - 01/2013)
7. Montus, Marie: 2 articles (01/2013 - 02/2012)
8. Navarro, C: 2 articles (05/2004 - 12/2000)
9. Teijeira, S: 2 articles (05/2004 - 12/2000)
10. Kunkel, L M: 2 articles (12/2003 - 05/2000)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to type 2C Limb-girdle muscular dystrophy:
1. eteplirsenIBA
2. Sarcoglycans (beta Sarcoglycan)IBA
3. TalinIBA
4. VinculinIBA
5. IntegrinsIBA
6. CalciumIBA
7. Proteins (Proteins, Gene)FDA Link
8. DystrophinIBA
9. Glycoproteins (Glycoprotein)IBA
10. DysferlinIBA
02/19/1999 - "Eight genes are mapped for the AR-LGMDs; they are: LGMD2A (CAPN3) at 15q, LGMD2B (dysferlin) at 2p, LGMD2C (gamma-SG) at 13q, LGMD2D (alpha-SG) at 17q, LGMD2E (beta-SG) at 4q, LGMD2F (6-SG) at 5q, LGMD2G at 17q, and more recently LGMD2H at 9q. "
02/15/2013 - "The data also suggest the existence of functional links between LGMD2B/dysferlin and gene regulation, between LGMD2C/γ-sarcoglycan and energy control and between LGMD2G/telethonin and maintenance of genome integrity. "
05/01/2004 - "With the diagnostic specificity conferred by the absence of expression by a specific protein or a mutation of a specific gene, we have learned that similar clinical phenotype may occur in different diseases, such as Duchenne muscular dystrophy and gamma-sarcoglycanopathy, but also that mutations in the same gene may cause different clinical phenotypes, as occurs in Miyoshi distal myopathy and limb girdle muscular dystrophy 2B, both caused by mutations in the dysferlin gene. "
01/01/2018 - "This approach has also been explored in several other genetic disorders, including laminin α2 chain-deficient congenital muscular dystrophy, dysferlin-deficient muscular dystrophy (e.g., Miyoshi myopathy and limb-girdle muscular dystrophy type 2B), sarcoglycanopathy (limb-girdle muscular dystrophy type 2C), and Fukuyama congenital muscular dystrophy. "
01/01/2018 - "Recently, these strategies have also been explored in many other genetic disorders, including dysferlin-deficient muscular dystrophy (e.g., Miyoshi myopathy; MM, limb-girdle muscular dystrophy type 2B; LGMD2B, and distal myopathy with anterior tibial onset; DMAT), laminin α2 chain (merosin)-deficient congenital muscular dystrophy (MDC1A), sarcoglycanopathy (e.g., limb-girdle muscular dystrophy type 2C; LGMD2C), and Fukuyama congenital muscular dystrophy (FCMD). "

Therapies and Procedures

1. Lasers (Laser)