Limb-girdle muscular dystrophy type 2F

Also Known As:

LGMD2F; Muscular Dystrophy, Limb-Girdle, Type 2F; Muscular dystrophy limb-girdle with delta-sarcoglyan deficiency

Networked: 23 relevant articles (0 outcomes, 2 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Muscular Diseases: 10128
  - Atrophic Muscular Disorders: 320
    - Muscular Dystrophies: 5779
      - Limb-Girdle Muscular Dystrophies: 800
        Sarcoglycanopathies: 158
        Limb-girdle muscular dystrophy type 2F: 23
Respiratory Tract Diseases: 6015
- Respiration Disorders: 18
  - Sarcoglycanopathies: 158
    - Limb-girdle muscular dystrophy type 2F: 23
Nervous System Diseases: 14178
- Neuromuscular Diseases: 2005
  - Muscular Diseases: 10128
    - Atrophic Muscular Disorders: 320
      - Muscular Dystrophies: 5779
        Limb-Girdle Muscular Dystrophies: 800
        Sarcoglycanopathies: 158
        Limb-girdle muscular dystrophy type 2F: 23
Cardiovascular Diseases: 91362
- Heart Diseases: 26014
  - Cardiomyopathies: 19128
    - Sarcoglycanopathies: 158
      - Limb-girdle muscular dystrophy type 2F: 23
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Muscular Dystrophies: 5779
    - Limb-Girdle Muscular Dystrophies: 800
      - Sarcoglycanopathies: 158
        Limb-girdle muscular dystrophy type 2F: 23

Related Diseases

1.	Muscular Dystrophies (Muscular Dystrophy)
2.	Sarcoglycanopathies
3.	type 2E Limb-girdle muscular dystrophy
4.	type 2C Limb-girdle muscular dystrophy
5.	Limb-girdle muscular dystrophy type 2A

Experts

1.	Straub, Volker: 3 articles (01/2013 - 12/2008)
2.	Blain, Alison: 2 articles (01/2013 - 11/2010)
3.	Greally, Elizabeth: 2 articles (01/2013 - 11/2010)
4.	Laval, Steve: 2 articles (01/2013 - 11/2010)
5.	MacGowan, Guy A: 2 articles (01/2013 - 11/2010)
6.	Bushby, Kate: 2 articles (11/2010 - 12/2008)
7.	Nigro, V: 2 articles (09/2003 - 06/2000)
8.	Abbas, Safdar: 1 article (01/2018)
9.	Ahmad, Farooq: 1 article (01/2018)
10.	Alfadhel, Majid: 1 article (01/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Limb-girdle muscular dystrophy type 2F:

1.	Sarcoglycans (beta Sarcoglycan)IBA 11/01/1998 - "In the present report, through screening 23 unrelated AR LGMD patients, we identified three subjects with LGMD2F, two with a previously reported frameshift mutation and the other homozygous for a new missense mutation in the delta sarcoglycan gene. " 12/13/1996 - "Furthermore, we have mapped the human delta-sarcoglycan gene to chromosome 5q33-q34 in a region overlapping the recently linked autosomal recessive LGMD2F locus." 03/17/2011 - "Mutations in the δ-sarcoglycan gene cause limb-girdle muscular dystrophy 2F (LGMD2F), an autosomal recessive disease that causes progressive weakness and wasting of the proximal limb muscles and often has cardiac involvement. " 10/01/1996 - "Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene." 01/01/2016 - "To determine whether this same early myocardial dysfunction is present in other muscular dystrophy cardiomyopathies, we conducted a physiological assessment of cardiac function at the tissue level in the δ-sarcoglycan null mouse model (Sgcd-/-) of Limb-girdle muscular dystrophy type 2F. "
2.	Dystroglycans (Dystroglycan)IBA 12/01/2003 - "In this study, we investigated proteolytic processing of beta-dystroglycan and its effect on the extracellular matrix-cell membrane linkage in cardiomyopathic hamsters, the model animals of LGMD2F. " 12/01/1996 - "To enhance our understanding of the autosomal recessive limb-girdle muscular dystrophy (LGMD), patients from six genetically distinct forms (LGMD2A to LGMD2F) were studied with antibodies directed against four sarcoglycan subunits (alpha-, beta-, gamma-, delta-SG), dystrophin, beta-dystroglycan (beta-DG) and merosin. " 05/01/2014 - "The autosomal recessive forms (LGMD2) are: LGMD2A (calpain 3), LGMD2B (dysferlin), LGMD2C (γ sarcoglycan), LGMD2D (α sarcoglycan), LGMD2E (β sarcoglycan), LGMD2F (δ sarcoglycan), LGMD2G (telethonin), LGMD2H (TRIM32), LGMD2I (FKRP), LGMD2J (titin), LGMD2K (POMT1), LGMD2L (anoctamin 5), LGMD2M (fukutin), LGMD2N (POMT2), LGMD2O (POMTnG1), LGMD2P (dystroglycan), LGMD2Q (plectin), LGMD2R (desmin), LGMD2S (TRAPPC11), LGMD2T (GMPPB), LGMD2U (ISPD), LGMD2V (Glucosidase, alpha ), LGMD2W (PINCH2)."
3.	MyostatinIBA 03/01/2008 - "These results and previous studies on the dyw/dyw mouse model of congenital muscular dystrophy and in the late-stage delta-sarcoglycan-deficient (Sgcd(-/-)) mouse model of LGMD2F document disease-specific limitations to therapeutic strategies based on myostatin blockade in the more severe mouse models of different muscular dystrophies."
4.	DysferlinIBA 02/19/1999 - "The main observations were: 1) all LGMD2E and LGMD2F patients had a severe condition, but considerable inter- and intra-familial clinical variability was observed among patients from all other groups; 2) serum CK activities showed the highest values in LGMD2D (alpha-SG) patients among sarcoglycanopathies and LGMD2B (dysferlin) patients among nonsarcoglycanopathies; 3) comparison between LGMD2A (CAPN3) and LGMD2B (dysferlin) showed that the first have on average a more severe course and have calf hypertrophy more frequently (86% versus 13%); and 4) inability to walk on toes was observed in approximately 70% of LGMD2B patients." 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. " 02/01/2008 - "LGMD relative frequency was as follows: LGMD1C (caveolin-3) 1.3%; LGMD2A (calpain-3) 28.4%; LGMD2B (dysferlin) 18.7%; LGMD2C (gamma-sarcoglycan) 4.5%; LGMD2D (alpha-sarcoglycan) 8.4%; LGMD2E (beta-sarcoglycan) 4.5%; LGMD2F (delta-sarcoglycan) 0.7%; LGMD2I (Fukutin-related protein) 6.4%; and undetermined 27.1%. " 09/01/2003 - "They are: calpain-3 (LGMD2A), dysferlin (LGMD2B), alpha-sarcoglycan (LGMD2D), beta-sarcoglycan (LGMD2E), gamma-sarcoglycan (LGMD2C), delta-sarcoglycan (LGMD2F), telethonin (LGMD2G), TRIM32 (LGMD2H), fukutin-related protein (LGMD2I) and titin (LGMD2J). " 05/01/2014 - "The autosomal recessive forms (LGMD2) are: LGMD2A (calpain 3), LGMD2B (dysferlin), LGMD2C (γ sarcoglycan), LGMD2D (α sarcoglycan), LGMD2E (β sarcoglycan), LGMD2F (δ sarcoglycan), LGMD2G (telethonin), LGMD2H (TRIM32), LGMD2I (FKRP), LGMD2J (titin), LGMD2K (POMT1), LGMD2L (anoctamin 5), LGMD2M (fukutin), LGMD2N (POMT2), LGMD2O (POMTnG1), LGMD2P (dystroglycan), LGMD2Q (plectin), LGMD2R (desmin), LGMD2S (TRAPPC11), LGMD2T (GMPPB), LGMD2U (ISPD), LGMD2V (Glucosidase, alpha ), LGMD2W (PINCH2)."
5.	DystrophinIBA 02/01/1999 - "Two additional SG patients here reported give further support to these suggestions: an LGMD2F patient showed patchy labelling for gamma-SG, despite the lack of staining of the other three SG proteins; an LGMD2C boy showed deficiency in dystrophin by means of WB and IF, comparable with an DMD manifesting carrier. " 07/01/2014 - "Mutation in Sgcd (sarcoglycan-δ), a subunit of dystrophin glycoprotein complex, causes LGMD2F (limb girdle muscular dystrophy 2F). " 12/01/1996 - "To enhance our understanding of the autosomal recessive limb-girdle muscular dystrophy (LGMD), patients from six genetically distinct forms (LGMD2A to LGMD2F) were studied with antibodies directed against four sarcoglycan subunits (alpha-, beta-, gamma-, delta-SG), dystrophin, beta-dystroglycan (beta-DG) and merosin. "
6.	Proteins (Proteins, Gene)FDA Link 02/01/1999 - "Two additional SG patients here reported give further support to these suggestions: an LGMD2F patient showed patchy labelling for gamma-SG, despite the lack of staining of the other three SG proteins; an LGMD2C boy showed deficiency in dystrophin by means of WB and IF, comparable with an DMD manifesting carrier. " 02/01/2008 - "LGMD relative frequency was as follows: LGMD1C (caveolin-3) 1.3%; LGMD2A (calpain-3) 28.4%; LGMD2B (dysferlin) 18.7%; LGMD2C (gamma-sarcoglycan) 4.5%; LGMD2D (alpha-sarcoglycan) 8.4%; LGMD2E (beta-sarcoglycan) 4.5%; LGMD2F (delta-sarcoglycan) 0.7%; LGMD2I (Fukutin-related protein) 6.4%; and undetermined 27.1%. " 09/01/2003 - "They are: calpain-3 (LGMD2A), dysferlin (LGMD2B), alpha-sarcoglycan (LGMD2D), beta-sarcoglycan (LGMD2E), gamma-sarcoglycan (LGMD2C), delta-sarcoglycan (LGMD2F), telethonin (LGMD2G), TRIM32 (LGMD2H), fukutin-related protein (LGMD2I) and titin (LGMD2J). "
7.	ConnectinIBA 09/01/2003 - "They are: calpain-3 (LGMD2A), dysferlin (LGMD2B), alpha-sarcoglycan (LGMD2D), beta-sarcoglycan (LGMD2E), gamma-sarcoglycan (LGMD2C), delta-sarcoglycan (LGMD2F), telethonin (LGMD2G), TRIM32 (LGMD2H), fukutin-related protein (LGMD2I) and titin (LGMD2J). " 05/01/2014 - "The autosomal recessive forms (LGMD2) are: LGMD2A (calpain 3), LGMD2B (dysferlin), LGMD2C (γ sarcoglycan), LGMD2D (α sarcoglycan), LGMD2E (β sarcoglycan), LGMD2F (δ sarcoglycan), LGMD2G (telethonin), LGMD2H (TRIM32), LGMD2I (FKRP), LGMD2J (titin), LGMD2K (POMT1), LGMD2L (anoctamin 5), LGMD2M (fukutin), LGMD2N (POMT2), LGMD2O (POMTnG1), LGMD2P (dystroglycan), LGMD2Q (plectin), LGMD2R (desmin), LGMD2S (TRAPPC11), LGMD2T (GMPPB), LGMD2U (ISPD), LGMD2V (Glucosidase, alpha ), LGMD2W (PINCH2)."
8.	Nonsense Codon (Nonsense Mutation)IBA 01/01/2018 - "SGCD Homozygous Nonsense Mutation (p.Arg97∗) Causing Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) in a Consanguineous Family, a Case Report." 06/01/2000 - "A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F."
9.	Metoprolol (Toprol-XL)FDA LinkGeneric 01/01/2013 - "We treated 2 different dystrophic mouse models which have an associated cardiomyopathy (mdx: model for Duchenne Muscular Dystrophy, and Sgcd-/-: model for limb girdle muscular dystrophy type 2F) and wild type controls (C57 Bl10) with the beta blocker metoprolol or placebo for 8 weeks at an early stage in the development of the cardiomyopathy. " 11/01/2010 - "Metoprolol was given orally (2.5 mg/kg/day) over 8 weeks to mdx mice (model for Duchenne muscular dystrophy) and δ-sarcoglycan-deficient (Sgcd(null)) mice (model for Limb girdle muscular dystrophy type 2F). "
10.	PlectinIBA 05/01/2014 - "The autosomal recessive forms (LGMD2) are: LGMD2A (calpain 3), LGMD2B (dysferlin), LGMD2C (γ sarcoglycan), LGMD2D (α sarcoglycan), LGMD2E (β sarcoglycan), LGMD2F (δ sarcoglycan), LGMD2G (telethonin), LGMD2H (TRIM32), LGMD2I (FKRP), LGMD2J (titin), LGMD2K (POMT1), LGMD2L (anoctamin 5), LGMD2M (fukutin), LGMD2N (POMT2), LGMD2O (POMTnG1), LGMD2P (dystroglycan), LGMD2Q (plectin), LGMD2R (desmin), LGMD2S (TRAPPC11), LGMD2T (GMPPB), LGMD2U (ISPD), LGMD2V (Glucosidase, alpha ), LGMD2W (PINCH2)."