Alan Walker vs. Martin Garrix - World Of Walker - 电台节目 - 网易云音乐
Alan Walker vs. Martin Garrix
World Of Walker 第2期
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介绍： 第二期，本来想先发的。我又修改了下.
介绍： 第二期，本来想先发的。我又修改了下.
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Alan Walker
The 18-year old, Norwegian producer Alan Walker has emerged on the global music scene as one of the most successful artists of 2016 with his record breaking single “Faded”. Growing up in the digital era, Alan found an early interest in computers which later turned into a fascination for programming and graphic design. In 2012 he started making music on his laptop. Inspired by a track on YouTube and with the help and feedback from his online friends, his music has spread across the world.
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HomeHealth ConditionsWalker-Warburg syndrome
Walker-Warburg syndrome
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Description
Walker-Warburg syndrome is an inherited disorder that affects development of the muscles, brain, and eyes. It is the most severe of a group of genetic conditions known as congenital muscular dystrophies, which cause muscle weakness and wasting (atrophy) beginning very early in life. The signs and symptoms of Walker-Warburg syndrome are present at birth or in early infancy. Because of the severity of the problems caused by Walker-Warburg syndrome, most affected individuals do not survive past age 3.Walker-Warburg syndrome affects the skeletal muscles, which are muscles the body uses for movement. Affected babies have weak muscle tone (hypotonia) and are sometimes described as "floppy." The muscle weakness worsens over time.Walker-Warburg syndrome al individuals with this condition typically have a brain abnormality called cobblestone lissencephaly, in which the surface of the brain lacks the normal folds and grooves and instead develops a bumpy, irregular appearance (like that of cobblestones). These individuals may also have a buildup of fluid in the brain (hydrocephalus) or abnormalities of certain , including a region called the cerebellum and the part of the brain that connects to the spinal cord (the brainstem). These changes in the structure of the brain lead to significantly delayed development and intellectual disability. Some individuals with Walker-Warburg syndrome experience seizures.Eye abnormalities are also characteristic of Walker-Warburg syndrome. These can include unusually small eyeballs (microphthalmia), enlarged eyeballs caused by increased pressure in the eyes (buphthalmos), clouding of the lenses of the eyes (cataracts), and problems with the nerve that relays visual information from the eyes to the brain (the optic nerve). These eye problems lead to vision impairment in affected individuals.
Walker-Warburg syndrome is estimated to affect 1 in 60,500 newborns worldwide.
Genetic Changes
Walker-Warburg syndrome can be caused by mutations in at least a dozen genes. The most commonly mutated genes were discovered first, including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1. Mutations in these genes are found in about half of individuals with Walker-Warburg syndrome. Other genes, some of which have not been identified, are also involved in development of this condition.The proteins produced from the genes listed above and others involved in Walker-Warburg syndrome modify a protein called alpha (α)- this modification, called glycosylation, is required for α-dystroglycan to function. The α-dystroglycan protein helps anchor the structural framework inside each cell (cytoskeleton) to the lattice of proteins and other molecules outside the cell (extracellular matrix). In skeletal muscles, the anchoring function of glycosylated α-dystroglycan helps stabilize and protect muscle fibers. In the brain, it helps direct the movement (migration) of nerve cells (neurons) during early development.Mutations in the genes associated with Walker-Warburg syndrome prevent glycosylation of α-dystroglycan, which disrupts its normal function. Without functional α-dystroglycan to stabilize muscle cells, muscle fibers become damaged as they repeatedly contract and relax with use. The damaged fibers weaken and die over time, leading to progressive weakness of the skeletal muscles.Defective α-dystroglycan also affects the migration of neurons during the early development of the brain. Instead of stopping when they reach their intended destinations, some neurons migrate past the surface of the brain into the fluid-filled space that surrounds it. Researchers believe that this problem with neuronal migration causes cobblestone lissencephaly in children with Walker-Warburg syndrome. Less is known about the effects of the gene mutations in other parts of the body, including the eyes.Because Walker-Warburg syndrome involves a malfunction of α-dystroglycan, this condition is classified as a dystroglycanopathy.
Learn more about the genes associated with Walker-Warburg syndrome
B3GALNT2 B4GAT1 DAG1 FKRP FKTN ISPD LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1
Inheritance Pattern
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Diagnosis & Management Resources
Genetic Testing (1 link)
Genetic Testing Registry: Walker-Warburg congenital muscular dystrophy
Other Diagnosis and Management Resources (1 link)
GeneReview: Congenital Muscular Dystrophy Overview
General Information from MedlinePlus (5 links)
Diagnostic TestsDrug TherapyGenetic CounselingPalliative CareSurgery and Rehabilitation
Other Names for This Condition
cerebroocular dysplasia-muscular dystrophy syndromeChemke syndromeCOD-MD syndromeHARD syndromehydrocephalus, agyria, and retinal dysplasiaMDDGAmuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Amuscular dystrophy-dystroglycanopathy [with brain and eye anomalies], type AWalker-Warburg congenital muscular dystrophy
Additional Information & Resources
MedlinePlus (3 links)
Health Topic: Brain MalformationsHealth Topic: Eye DiseasesHealth Topic: Muscular Dystrophy
Genetic and Rare Diseases Information Center (1 link)
Walker-Warburg syndrome
Educational Resources (7 links)
Centers for Disease Control and Prevention: Intellectual Disability (PDF)Disease InfoSearch: Walker-Warburg syndromeKidsHealth from Nemours: Muscular DystrophyMalaCards: walker-warburg syndromeMuscular Dystrophy Association: Congenital Muscular DystrophyOrphanet: Walker-Warburg syndromeUniversity of Arizona
Patient Support and Advocacy Resources (4 links)
Cure CMDMuscular Dystrophy AssociationNational Organization for Rare Disorders (NORD)The Arc: For People with Intellectual and Developmental Disabilities
GeneReviews (1 link)
Congenital Muscular Dystrophy Overview
ClinicalTrials.gov (1 link)
ClinicalTrials.gov
Scientific Articles on PubMed (1 link)
OMIM (12 links)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13
Sources for This Page
Endo T. Glycobiology of α-dystroglycan and muscular dystrophy. J Biochem. ):1-12. doi: 10.1093/jb/mvu066. Review. Citation on PubMedGodfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain. (Pt 10):2725-35. Epub 2007 Sep 18. Citation on PubMedTaniguchi-Ikeda M, Morioka I, Iijima K, Toda T. Mechanistic aspects of the formation of α-dystroglycan and therapeutic research for the treatment of α-dystroglycanopathy: A review. Mol Aspects Med. -24. doi: 10.1016/j.mam.. Review. Citation on PubMedVajsar J, Schachter H. Walker-Warburg syndrome. Orphanet J Rare Dis. 2006 Aug 3;1:29. Review. Citation on PubMed or Free article on PubMed CentralYoshida-Moriguchi T, Yu L, Stalnaker SH, Davis S, Kunz S, Madson M, Oldstone MB, Schachter H, Wells L, Campbell KP. O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding. Science. 2010 Jan 1;327(. doi: 10.1126/science.1180512. Citation on PubMed or Free article on PubMed Centralvan Reeuwijk J, Brunner HG, van Bokhoven H. Glyc-O-genetics of Walker-Warburg syndrome. Clin Genet. ):281-9. Review. Citation on PubMed
Bulletins Genetics Home Reference Celebrates Its 15th AnniversaryGenetic Information Non-Discrimination Act (GINA) Turns 10July is National Cleft and Craniofacial Awareness and Prevention MonthAll Bulletins Features What is direct-to-consumer genetic testing?What are genome editing and CRISPR-Cas9?What is precision medicine?What is newborn screening? New Pages NearsightednessMicrocephaly, seizures, and developmental delayAlopecia areataAll New & Updated Pages
The resources on this site should not be used as a substitute for professional medical care or advice. Users with questions about a personal health condition should consult with a qualified healthcare professional.
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