Matches in SemOpenAlex for { <https://semopenalex.org/work/W2746979416> ?p ?o ?g. }
- W2746979416 endingPage "118" @default.
- W2746979416 startingPage "111" @default.
- W2746979416 abstract "Dysferlin is a sarcolemmal protein that plays an important role in patching defects in skeletal membrane by regulating vesicle fusion with the sarcolemma. Mutations in the dysferlin gene can lead to a variety of clinical phenotypes. Affected individuals usually present with early involvement of the posterior calf muscles (Miyoshi myopathy) in their teens or early twenties, but can present with proximal greater than distal weakness similar to other limb-girdle muscular dystrophies (LGMD2B), with anterior tibial weakness, an axial myopathy (e.g., rigid spine syndrome or hyperkyphosis resembling bent spine syndrome), or any combination of the above. Muscle biopsies may be quite inflammatory, often resulting in a misdiagnosis as polymyositis. Unfortunately, there are no medical therapies available at this time." @default.
- W2746979416 created "2017-08-31" @default.
- W2746979416 creator A5025571618 @default.
- W2746979416 creator A5042815412 @default.
- W2746979416 date "2011-01-01" @default.
- W2746979416 modified "2023-10-16" @default.
- W2746979416 title "Dysferlinopathies" @default.
- W2746979416 cites W1551910894 @default.
- W2746979416 cites W1592698849 @default.
- W2746979416 cites W1605708617 @default.
- W2746979416 cites W1772894161 @default.
- W2746979416 cites W1898933516 @default.
- W2746979416 cites W1972997240 @default.
- W2746979416 cites W1981647923 @default.
- W2746979416 cites W1986132700 @default.
- W2746979416 cites W1991817429 @default.
- W2746979416 cites W1994513923 @default.
- W2746979416 cites W1999477428 @default.
- W2746979416 cites W1999779304 @default.
- W2746979416 cites W2003013145 @default.
- W2746979416 cites W2004552697 @default.
- W2746979416 cites W2005326385 @default.
- W2746979416 cites W2005593816 @default.
- W2746979416 cites W2006649304 @default.
- W2746979416 cites W2016469641 @default.
- W2746979416 cites W2017153451 @default.
- W2746979416 cites W2018758525 @default.
- W2746979416 cites W2021132479 @default.
- W2746979416 cites W2021149710 @default.
- W2746979416 cites W2023048665 @default.
- W2746979416 cites W2024906556 @default.
- W2746979416 cites W2025823912 @default.
- W2746979416 cites W2026087624 @default.
- W2746979416 cites W2031223556 @default.
- W2746979416 cites W2043172254 @default.
- W2746979416 cites W2045584862 @default.
- W2746979416 cites W2045596612 @default.
- W2746979416 cites W2047136624 @default.
- W2746979416 cites W2051937933 @default.
- W2746979416 cites W2067458775 @default.
- W2746979416 cites W2076939004 @default.
- W2746979416 cites W2077295583 @default.
- W2746979416 cites W2079295410 @default.
- W2746979416 cites W2087181878 @default.
- W2746979416 cites W2097780430 @default.
- W2746979416 cites W2099194855 @default.
- W2746979416 cites W2108670166 @default.
- W2746979416 cites W2112697515 @default.
- W2746979416 cites W2114243513 @default.
- W2746979416 cites W2123722987 @default.
- W2746979416 cites W2134709331 @default.
- W2746979416 cites W2139367964 @default.
- W2746979416 cites W2150040672 @default.
- W2746979416 cites W2154413314 @default.
- W2746979416 cites W2157387476 @default.
- W2746979416 cites W2157599849 @default.
- W2746979416 cites W2161549226 @default.
- W2746979416 cites W2312944535 @default.
- W2746979416 cites W52443429 @default.
- W2746979416 doi "https://doi.org/10.1016/b978-0-08-045031-5.00007-4" @default.
- W2746979416 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21496627" @default.
- W2746979416 hasPublicationYear "2011" @default.
- W2746979416 type Work @default.
- W2746979416 sameAs 2746979416 @default.
- W2746979416 citedByCount "37" @default.
- W2746979416 countsByYear W27469794162012 @default.
- W2746979416 countsByYear W27469794162013 @default.
- W2746979416 countsByYear W27469794162014 @default.
- W2746979416 countsByYear W27469794162015 @default.
- W2746979416 countsByYear W27469794162016 @default.
- W2746979416 countsByYear W27469794162017 @default.
- W2746979416 countsByYear W27469794162018 @default.
- W2746979416 countsByYear W27469794162019 @default.
- W2746979416 countsByYear W27469794162020 @default.
- W2746979416 countsByYear W27469794162022 @default.
- W2746979416 countsByYear W27469794162023 @default.
- W2746979416 crossrefType "book-chapter" @default.
- W2746979416 hasAuthorship W2746979416A5025571618 @default.
- W2746979416 hasAuthorship W2746979416A5042815412 @default.
- W2746979416 hasConcept C104317684 @default.
- W2746979416 hasConcept C105702510 @default.
- W2746979416 hasConcept C127716648 @default.
- W2746979416 hasConcept C142724271 @default.
- W2746979416 hasConcept C199096232 @default.
- W2746979416 hasConcept C2777300911 @default.
- W2746979416 hasConcept C2778649560 @default.
- W2746979416 hasConcept C2779387793 @default.
- W2746979416 hasConcept C2779959927 @default.
- W2746979416 hasConcept C2780247198 @default.
- W2746979416 hasConcept C37113945 @default.
- W2746979416 hasConcept C54355233 @default.
- W2746979416 hasConcept C71924100 @default.
- W2746979416 hasConcept C86803240 @default.
- W2746979416 hasConceptScore W2746979416C104317684 @default.
- W2746979416 hasConceptScore W2746979416C105702510 @default.
- W2746979416 hasConceptScore W2746979416C127716648 @default.
- W2746979416 hasConceptScore W2746979416C142724271 @default.
- W2746979416 hasConceptScore W2746979416C199096232 @default.