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*  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
*  Limb-girdle muscular dystrophy type 1B | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program
A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists ... Limb-girdle muscular dystrophy type 1B (LGMD1B) is one of many types of limb-girdle muscular dystrophy. These diseases affect ... ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy. *Muscular Dystrophy; Limb-Girdle, Type 1B; LGMD1B. Online Mendelian ... Limb-girdle muscular dystrophy type 1B (LGMD1B) causes muscle weakness, especially in the lower limbs. The muscle weakness ...
  https://rarediseases.info.nih.gov/diseases/10230/limb-girdle-muscular-dystrophy-type-1b
*  Limb-girdle muscular dystrophy type 2F | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program
A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists ... Limb-girdle muscular dystrophy type 2F Title Other Names:. LGMD2F; Muscular dystrophy limb-girdle with delta-sarcoglyan ... limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy ... Genetics Home Reference (GHR) contains information on Limb-girdle muscular dystrophy type 2F. This website is maintained by the ...
  https://rarediseases.info.nih.gov/diseases/8573/limb-girdle-muscular-dystrophy-type-2f
*  Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy. - Semantic Scholar
Limb-girdle muscular dystrophy is a syndrome of progressive myopathic weakness affecting shoulder and hip girdle and proximal ... Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy.. @article{Gilchrist1988ClinicalAG, ... Limb-girdle muscular dystrophy is a syndrome of progressive myopathic weakness affecting shoulder and hip girdle and proximal ... title={Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy.}, author={John M. Gilchrist and ...
  https://www.semanticscholar.org/paper/Clinical-and-genetic-investigation-in-autosomal-Gilchrist-Pericak-Vance/a8042fa6d9a019b5804af62ae2184a7399a27a2f
*  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
*  Frontiers | DNA Sequence Analysis in Clinical Medicine, Proceeding Cautiously | Molecular Biosciences
In addition, genetic information may be useful in identification of at risk family members. Gene mapping and initial genome ... In addition, genetic information may be useful in identification of at risk family members. Gene mapping and initial genome ... Delineation of underlying genomic and genetic factors in a specific disease may be valuable in establishing a definitive ... Delineation of underlying genomic and genetic factors in a specific disease may be valuable in establishing a definitive ...
  https://www.frontiersin.org/articles/10.3389/fmolb.2017.00024/full
*  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
*  Journal of Neuromuscular Diseases - Volume 3, issue 4 - Journals - IOS Press
Keywords: Muscular dystrophies, limb-girdle, muscular diseases, inborn genetic diseases, aerobic exercise ... diagnosis and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal ... Decreased Aerobic Capacity in ANO5-Muscular Dystrophy Authors: Ylikallio, Emil , Auranen, Mari , Mahjneh, Ibrahim , Lamminen, ... FHL1B Interacts with Lamin A/C and Emerin at the Nuclear Lamina and is Misregulated in Emery-Dreifuss Muscular Dystrophy ...
  https://content.iospress.com/journals/journal-of-neuromuscular-diseases/3/4
*  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
*  Sarcoglycanopathies: Clinical, Molecular and Genetic Characteristics, Epidemiology, Diagnostics and Treatment Options, Russian...
Molecular and Genetic Characteristics, Epidemiology, Diagnostics and Treatment Options, Russian Journal of Genetics" on ... Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p ... Common recessive limb girdle muscular dystrophies differential diagnosis: why and how. Cotta, A.; Carvalho, E.; da-Cunha-Junior ... Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene ...
  https://www.deepdyve.com/lp/springer_journal/sarcoglycanopathies-clinical-molecular-and-genetic-characteristics-3yEdEl3V90
*  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
*  Page 297 - 30917 ASHG Complete
... limb-girdle,muscular,dystrophies.,Monies,,Majid,,Al,Muhaizea,,Hindi,,Homoud,,Azami,,Jaroudi,,Baz,,Naim,,Haibey,,Meyer,,Bohlega. ... 1115F A molecular genetic approach to the diagnosi of limb-girdle muscular dystrophies. ...
  http://www.ashg.org/2011meeting/program_guide/files/assets/seo/page298.html
*  Test | Invitae Limb-Girdle Muscular Dystrophy Panel
Genetic testing for up to 34 genes that are known to be associated with limb-girdle muscular dystrophy (LGMD). This test covers ... Given that limb-girdle muscular dystrophy is a heterogeneous group of disorders, identification of the underlying genetic cause ... Invitae Limb-Girdle Muscular Dystrophy Panel. Test description. The Invitae Limb-Girdle Muscular Dystrophy Panel analyzes up to ... Nigro, V, Savarese, M. Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myol. 2014; 33(1):1-12. PMID: ...
  https://www.invitae.com/en/physician/tests/03304/
*  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
*  Limb Girdle Muscular Dystrophy Type 2E Recruitment Study - Full Text View - ClinicalTrials.gov
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. ... Limb Girdle Muscular Dystrophy Type 2E Recruitment Study. The safety and scientific validity of this study is the ... this trial is recruiting individuals who are suspected or have been confirmed to have Limb Girdle Muscular Dystrophy type 2E ( ...
  https://clinicaltrials.gov/ct2/show?recrs=abc&cond=%22Muscular+Dystrophies%22&rank=32
*  Muscular Dystrophies, Limb-Girdle | Harvard Catalyst Profiles | Harvard Catalyst
Genetic Diseases, Inborn [C16.320]. *Muscular Dystrophies [C16.320.577]. *Muscular Dystrophies, Limb-Girdle [C16.320.577.280] ... "Muscular Dystrophies, Limb-Girdle" by people in Harvard Catalyst Profiles by year, and whether "Muscular Dystrophies, Limb- ... Muscular Dystrophies, Limb-Girdle*Muscular Dystrophies, Limb-Girdle. *Muscular Dystrophies, Limb Girdle ... Muscular Dystrophies, Limb-Girdle [C10.668.491.175.500.149]. *Congenital, Hereditary, and Neonatal Diseases and Abnormalities [ ...
  https://connects.catalyst.harvard.edu/Profiles/display/Concept/Muscular%20Dystrophies,%20Limb-Girdle
*  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
*  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
*  Muscular Dystrophy, Limb-Girdle, Type 2a disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Genetic tests related to Muscular Dystrophy, Limb-Girdle, Type 2a:. #. Genetic test. Affiliating Genes. ... Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 1b Muscular Dystrophy, Limb-Girdle, Type 2a Muscular Dystrophy, Limb ... Limb-Girdle, Type 2d Muscular Dystrophy, Limb-Girdle, Type 1f Muscular Dystrophy, Limb-Girdle, Type 2j Limb-Girdle Muscular ... Limb-Girdle, Type 2c Muscular Dystrophy, Limb-Girdle, Type 2h Muscular Dystrophy, Limb-Girdle, Type 2f Muscular Dystrophy, Limb ...
  https://www.malacards.org/card/muscular_dystrophy_limb_girdle_type_2a?search=
*  Myonexus Therapeutics Announces The Initiation Of A Trial For The First-Ever Gene Therapy For Beta-sarcoglycanopathy, Also...
... a clinical-stage gene therapy company developing first-ever corrective gene therapies for limb girdle muscular dystrophies ( ... About Limb-Girdle Muscular Dystrophy (LGMD) Limb girdle muscular dystrophies are genetic diseases that cause progressive, ... Also Known as Limb-Girdle Muscular Dystrophy Type 2E. 08/11/2018. ... a clinical-stage gene therapy company developing first-ever corrective gene therapies for limb girdle muscular dystrophies ( ...
  https://www.globalbankingandfinance.com/myonexus-therapeutics-announces-the-initiation-of-a-trial-for-the-first-ever-gene-therapy-for-beta-sarcoglycanopathy-also-known-as-limb-girdle-muscular-dystrophy-type-2e/
*  Proceedings of 2nd Annual Charles River World Congress: Lessons Learned from Rare Disease and Personalized Medicine Approaches ...
... for a member of the Jain family diagnosed with a rare genetic muscle wasting disease called Limb Girdle Muscular Dystrophy 2B/ ... is a genetic medicines company dedicated to transforming the lives of patients suffering from rare genetic diseases with ... Myotonic Dystrophy type 1 (DM1), is an RNA-based disease caused by a transcribed CTG-repeat expansion within the 3' UTR of the ... A12 Identification of a novel kinase target for myotonic dystrophy therapy * A13 A non-profit mechanism for moving proof-of- ...
  https://link.springer.com/article/10.1186%2Fs12967-018-1596-2
*  COCHIN CARDIAC CLUB: 2013
Limb-girdle muscular dystrophy - a group of conditions that usually develop in late childhood or early adulthood; some variants ... Producing healthy muscle fibres: Scientists hope that if stem cells without the genetic defect that causes DMD can be delivered ... Symptoms of Muscular Dystrophy. The symptoms of muscular dystrophy are the result of a deterioration of the body's muscles. ... Range-of-motion exercises. Muscular dystrophy can restrict the flexibility and mobility of joints. Limbs often draw inward and ...
  http://cochincardiacclub.blogspot.com/2013/