*  Muscular Dystrophy-Dystroglycanopathy (limb-Girdle), Type C, 5 - UK Genetic Testing Network
Limb-Girdle), Type C, 5 *Muscular Dystrophy, Limb-Girdle, Type 2i. *Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp- ... Muscular Dystrophy-Dystroglycanopathy (limb-Girdle), Type C, 5: Prenatal Diagnosis by Testing for known mutations in family ... Institute of Genetic Medicine International Centre for Life Central Parkway Newcastle. NE1 3BZ. United Kingdom ... Muscular Dystrophy-Dystroglycanopathy (limb-Girdle), Type C, 5. Service level. Testing for known mutations in family members. ...
  https://ukgtn.nhs.uk/find-a-test/search-by-disorder-gene/details/452/
*  Limb-Girdle Muscular Dystrophy Deletion/Duplication Panel | The University of Chicago Genetic Services
Limb girdle muscular dystrophies is a term generally used to describe progessive weakness and wasting restricted to the limb ... Our Limb Girdle Muscular Dystrophy Sequencing Panel includes all of the following 25 genes: MYOT, LMNA, CAV3, DES, DNAJB6, FLNC ... musculature (proximal greater than distal), due to a genetic defect that is distinct from X-linked dystrophinopathy. Muscle ...
  http://dnatesting.uchicago.edu/tests/limb-girdle-muscular-dystrophy-deletionduplication-panel
*  2014 - TIGEM
Nigro V, Savarese M (2014). Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myol 33 (1):1-12. ... A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). Hum Mol Genet 23 (15):4103- ... Nigro V, Piluso G (2014). Spectrum of muscular dystrophies associated with sarcolemmal-protein genetic defects. Biochim Biophys ... Prediction of rare single-nucleotide causative mutations for muscular diseases in pooled next-generation sequencing experiments ...
  http://www.tigem.it/research/scientific-publications/2014-1
*  Molecular Genetics of LimbGirdle Muscular Dystrophies
... girdle muscular dystrophies (LGMDs) area group of genetically heterogeneous neuromuscular disorders caused by specific protein ... defects in muscle fibres and characterised by predominant weakness and wasting in proximal limb and axial muscles ... Nigro V and Savarese M (2014) Genetic basis of limbgirdle muscular dystrophies: the 2014 update. Acta Myologica 33 (1): 1-12. ... Keywords: LGMD; autosomal‐dominant limbgirdle muscular dystrophy; autosomal‐recessive limbgirdle muscular dystrophy; muscle ...
  http://www.els.net/WileyCDA/ElsArticle/refId-a0022407.html
*  Physical Medicine and Rehabilitation for Limb-Girdle Muscular Dystrophy Follow-up: Further Outpatient Care, Complications,...
The earliest descriptions of limb-girdle weakness are ascribed to Leyden and Möbius in 1876 and 1879, respectively. They ... De Coster W, De Reuck J, Thiery E. A late autosomal dominant form of limb-girdle muscular dystrophy. A clinical, genetic, and ... identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet. ... Nigro V, Aurino S, Piluso G. Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches. Curr ...
  https://emedicine.medscape.com/article/313515-followup
*  Otto Hannes Vogel | Stanford Medicine Profiles
We sought to identify the genetic basis of limb-girdle muscular dystrophy type 1 in an American family of Northern European ... Limb-girdle muscular dystrophy primarily affects the muscles of the hips and shoulders (the "limb-girdle" muscles), although it ... sequencing provided an unbiased and effective method for identifying the genetic etiology of limb-girdle muscular dystrophy ... Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy. ...
  https://med.stanford.edu/profiles/hannes-vogel
*  autosomal recessive limb-girdle muscular dystrophy type 2A Disease Ontology Browser - DOID:0110275
Leyden-Moebius muscular dystrophy; LGMD2A; limb-girdle muscular dystrophy due to calpain deficiency; muscular dystrophy, limb- ... girdle, type 2A; pelvofemoral muscular dystrophy; primary calpainopathy ... autosomal recessive limb-girdle muscular dystrophy type 2A. Associated Mouse Gene: Capn3 Allelic Composition. Genetic ... Leyden-Moebius muscular dystrophy; LGMD2A; limb-girdle muscular dystrophy due to calpain deficiency; muscular dystrophy, limb- ...
  http://www.informatics.jax.org/disease/253600
*  MYOT - Wikipedia
"Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q ... Myotilin is mutated in various forms of muscular dystrophy: Limb-Girdle Muscular Dystrophy type 1A (LGMD1A), Myofibrillar ... "Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb ... the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly". Human ...
  https://en.wikipedia.org/wiki/MYOT
*  The proteoglycan-dystrophin complex in genetic cardiomyopathie...
... lessons from three siblings with limb-girdle muscular dystrophy-2I (LGMD-2I).: ... The proteoglycan-dystrophin complex in genetic cardiomyopathies--lessons from three siblings with limb-girdle muscular ... The proteoglycan-dystrophin complex in genetic cardiomyopathies-- ... dystrophy-2I (LGMD-2I).. Authors * Yilmaz, Ali * Gdynia, Hans- ...
  https://www.mysciencework.com/publication/show/proteoglycan-dystrophin-complex-genetic-cardiomyopathies-lessons-from-three-siblings-limb-girdle-muscular-dystrophy-2i-37985a87
*  Guidance in Social and Ethical Issues Related to Clinical, Diagnostic Care and Novel Therapies for Hereditary Neuromuscular...
Nigro V, Aurino S, Piluso G. Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches. Curr ... Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D. Ann Neurol. 2010 ... Muntoni F, Wells D. Genetic treatments in muscular dystrophies. Curr Opin Neurol. 2007 Oct;20(5):590-4. PubMed PMID:17885450. ... Screening for conditions that do not meet the Wilson and Jungner criteria: the case of Duchenne muscular dystrophy. Am J Med ...
  http://currents.plos.org/md/article/guidance-in-social-and-ethical-issues-related-to-clinical-diagnostic-care-and-novel-therapies-for-hereditary-neuromuscular-rare-diseases-translating-the-translational-r/
*  Michele Calos | Stanford Medicine Profiles
... condition of patients suffering from genetic disorders like Duchenne muscular dystrophy and limb girdle muscular dystrophy ... Limb girdle muscular dystrophies types 2B (LGMD2B) and 2D (LGMD2D) are degenerative muscle diseases caused by mutations in the ... Correction of Disease Mutations in Induced Pluripotent Stem Cells Derived From Patients With Limb Girdle Muscular Dystrophy. ... these types of therapies will provide new options for patients suffering from muscular dystrophy and other genetic diseases. ...
  https://med.stanford.edu/profiles/michele-calos
*  Clinical Study of AAV1-gamma-sarcoglycan Gene Therapy for Limb Girdle Muscular Dystrophy Type 2C - Full Text View -...
Genetic and Rare Diseases Information Center resources: Muscular Dystrophy Limb-girdle Muscular Dystrophy Limb-girdle Muscular ... Muscular Dystrophies. Muscular Dystrophies, Limb-Girdle. Sarcoglycanopathies. Muscular Disorders, Atrophic. Muscular Diseases. ... Clinical Study of AAV1-gamma-sarcoglycan Gene Therapy for Limb Girdle Muscular Dystrophy Type 2C. The safety and scientific ... Limb Girdle Muscular Dystrophy Type 2C Gamma-sarcoglycanopathy Biological: AAV1-gamma-sarcoglycan vector injection Phase 1 ...
  https://clinicaltrials.gov/ct2/show/NCT01344798?term=gene+therapy%5BALL-FIELDS%5D&rank=20
*  Limb-girdle muscular dystrophy 2Y
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only ... An autosomal recessive form of limb-girdle muscular dystrophy, a degenerative myopathy characterized by slowly progressive ... Muscular dystrophy, limb-girdle, type 2y. Keywords. › Limb-girdle muscular dystrophy. Related websites. *. Online Mendelian ... LGMD2Y is characterized by muscle weakness initially involving the proximal lower limbs, followed by distal upper and lower ...
  http://www.uniprot.org/diseases/DI-04804
*  Takeda and UCL to work together to tackle muscle... ( Japanese pharmaceutical company Take...)
The team is also investigating the potential for treating muscular dys...,Takeda,and,UCL,to,work,together,to,tackle,muscle, ... Dr Tedesco's team will focus on the study of muscular regeneration and... ... limb-girdle muscular dystrophy 2D). Commenting on the new funding for his research, Dr Tedesco, from the UCL Department of Cell ... large quantities of progenitor cells could be produced to be transplanted into a patient's muscle following genetic correction ...
  http://www.bio-medicine.org/biology-news-1/Takeda-and-UCL-to-work-together-to-tackle-muscle-disorders-34479-1/
*  CAPN3 - Wikipedia
"Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the ... genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey". Ann. Neurol. 42 (2): 222-9. ... Pratt VM, Jackson CE, Wallace DC, Gurley DS, Feit A, Feldman GL (1997). "DNA studies of limb-girdle muscular dystrophy type 2A ... Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative ...
  https://en.wikipedia.org/wiki/CAPN3
*  Quest Landing | Muscular Dystrophy Association
Limb-girdle muscular dystrophy (LGMD) is a genetic disorder in which the muscles surrounding the hips and shoulders degenerate. ... In Focus: Limb-Girdle Muscular Dystrophy. Say "limb-girdle muscular dystrophy" to most people, and you'll get a questioning ... Q: Do the different types of limb-girdle muscular dystrophy have implications for what you tell people about their activities? ... She recently discussed exercise in limb-girdle muscular dystrophy (LGMD) with MDA medical and science editor Margaret Wahl. ...
  https://www.mda.org/quest?page=16
*  FDA Grants Fast Track Designation for aTyr's Resolaris™ to Treat Limb Girdle Muscular Dystrophy 2B and Removes Partial Clinical...
Limb girdle muscular dystrophy (LGMD) refers to a group of rare genetic myopathies, of which there are more than 20 different ... FDA Grants Fast Track Designation for aTyr's Resolaris™ to Treat Limb Girdle Muscular Dystrophy 2B and Removes Partial Clinical ... for the treatment of limb girdle muscular dystrophy 2B (LGMD2B), making it the first known therapeutic candidate for the ... www.prnewswire.com/news-releases/fda-grants-fast-track-designation-for-atyrs-resolaris-to-treat-limb-girdle-muscular-dystrophy- ...
  https://www.benzinga.com/pressreleases/17/01/n8916494/fda-grants-fast-track-designation-for-atyrs-resolaris-to-treat-limb-gir
*  C1847667[DISCUI] - GTR - NCBI
The overarching goal of the GTR is to advance the public health and research into the genetic basis of health and disease ... provides a central location for voluntary submission of genetic test information by providers. The scope includes the test's ... Dilated Cardiomyopathy and Limb-Girdle Muscular Dystrophy Type 2F via the SGCD Gene ... Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center. United States. 93. 51. *C Sequence analysis of the ...
  https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=C1847667%5BDISCUI%5D&display_string=Dilated+cardiomyopathy+1L&labs=21766&redirect=true
*  C0457133[DISCUI] - GTR - NCBI
The overarching goal of the GTR is to advance the public health and research into the genetic basis of health and disease ... provides a central location for voluntary submission of genetic test information by providers. The scope includes the test's ... Limb-Girdle Muscular Dystrophy Deletion/Duplication Panel. Genetic Services Laboratory University of Chicago. United States ... Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A. Centogene AG - the Rare Disease ...
  https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=C0457133%5BDISCUI%5D&methods=1%3A2
*  Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores | SpringerLink
Prior to any genetic testing, the diagnosis was described as limb girdle muscular dystrophy or spinal muscular atrophy, but the ... Efficient identification of novel mutations in patients with limb girdle muscular dystrophy. Neurogenetics 11:449-455PubMed ... Moreover, none of the more than 70 other genes previously implicated in muscular dystrophies, myopathies, or spinal muscular ... Dalkilic I, Kunkel LM (2003) Muscular dystrophies: genes to pathogenesis. Curr Opin Genet Dev 13:231-238PubMedCrossRefGoogle ...
  https://link.springer.com/article/10.1007%2Fs10048-012-0315-z
*  genetic counseling | Quest Magazine Online
This story includes items about: Becker, Duchenne and limb-girdle muscular dystrophies; myasthenia gravis; carnitine palmityl ... Duchenne and Becker muscular dystrophies, mitochondrial myopathy, myasthenia gravis and spinal muscular atrophy ... Duchenne and Becker muscular dystrophies, mitochondrial myopathy, myasthenia gravis and spinal muscular atrophy ... Muscular Dystrophy Association - USA. National Office. 222 S. Riverside Plaza, Suite 1500. Chicago, IL 60606. (800) 572-1717 ...
  http://quest.mda.org/category/qmo-content-tags/genetic-counseling
*  DNA sequencing to improve muscular dystrophy diagnosis
... of Nottingham have used a revolutionary new DNA-reading technology for a research project that could lead to correct genetic ... the patient had two mutations in a gene known to cause limb-girdle muscular dystrophy (LGMD) type 2A, correcting the genetic ... To gain a genetic diagnosis for this, traditionally genes known to be involved in muscular dystrophies would have to be tested ... focused on a person who had previously been diagnosed with facioscapulohumeral muscular dystrophy (FSHD) - a type of muscular ...
  https://www.medicalsearch.com.au/dna-sequencing-to-improve-muscular-dystrophy-diagnosis/f/9138
*  Abstract Presentation Assignments: N | ASHG 2014 Annual Meeting
Limb-girdle muscular dystrophy 1G: how .... POSTER. Clinical Genetic Testing. 2491T. Tuesday, Oct. 21. Convention Center, ... Genetic variation in introns that flank .... POSTER. Genome structure, variation and function. 619S. Sunday, Oct. 19. ... Therapy for Genetic Disorders. 2203S. Sunday, Oct. 19. Convention Center, Exhibit Hall, Ground Level. 4:00pm-5:00pm. ... Therapy for Genetic Disorders. 2199S. Sunday, Oct. 19. Convention Center, Exhibit Hall, Ground Level. 4:00pm-5:00pm. ...
  http://www.ashg.org/2014meeting/abstracts/assignments/N.shtml
*  Faculty Directory › UConn Health
Genetic map of fibrillin-15, Marfan syndrome, Ectopia Lentis, Limb-Girdle muscular dystrophy on 15q; map of markers flanking ... Limb-girdle muscular dystrophy is closely linked to the fibrillin locus on chromosome 15. Velinov, M; Sarfarazi, M; Young, K; ... Genetic linkage between Becker muscular dystrophy and a polymorphic DNA sequence on the short arm of the X chromosome Kingston ... Genetic linkage relationships of seven DNA probes with Duchenne and Becker muscular dystrophy. Brown, C S; Thomas, N S; ...
  http://facultydirectory.uchc.edu/profile?profileId=3402
*  Dysferlin - Wikipedia
"Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage ... results in several types of muscular dystrophy; including Miyoshi myopathy (MM), Limb-girdle muscular dystrophy type 2B (LGMD2B ... "Entrez Gene: DYSF dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)". Leiden University Medical Center, Center ... "A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p". Hum. Mol. Genet. 3 (3): 455-7. doi: ...
  https://en.wikipedia.org/wiki/Dysferlin