*  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
*  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
*  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
*  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
*  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
*  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
*  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
*  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=
*  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
*  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/
*  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
*  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
*  Emery-Dreifuss muscular dystrophy, X-linked | 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. 0006785 Myotonia. 0002486 Pectus excavatum. Funnel chest 0000767 ... Emery-Dreifuss muscular dystrophy, X-linked Title Other Names:. Muscular dystrophy, tardive Emery-Dreifuss type, with ... Emery-Dreifuss muscular dystrophy is caused by mutations. in the EMD and LMNA genes. . It can be inherited. in an X-linked. , ...
  https://rarediseases.info.nih.gov/diseases/2102/emery-dreifuss-muscular-dystrophy-x-linked
*  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
*  ANO5 Gene Sequencing
... type 2L and Miyoshi muscular dystrophy 3, which are inherited in autosomal recessive manner. Limb-girdle muscular dystrophy ( ... Submission of completed Genetic Test Requisition Form is required, and submission of informed consent form is recommended but ... The limb-girdle muscular dystrophies typically show dystrophic changes on muscle biopsy, which is usually associated with ... in both alleles of this gene has been associated with limb-girdle muscular dystrophy (LGMD) ...
  https://www.nationwidechildrens.org/specialties/laboratory-services/lab-test-directory/ano5-gene-sequencing