 Muscular Dystrophies, Limb-Girdle
"Muscular Dystrophies, Limb-Girdle" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. There are many forms (called LGMDs) involving genes encoding muscle membrane proteins such as the sarcoglycan (SARCOGLYCANS) complex that interacts with DYSTROPHIN. The disease is characterized by progressing wasting and weakness of the proximal muscles of arms and legs around the HIPS and SHOULDERS (the pelvic and shoulder girdles).
| Descriptor ID |
D049288
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| MeSH Number(s) |
C05.651.534.500.280 C10.668.491.175.500.149 C16.320.577.280
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| Concept/Terms |
Muscular Dystrophies, Limb-Girdle- Muscular Dystrophies, Limb-Girdle
- Muscular Dystrophies, Limb Girdle
- Limb-Girdle Muscular Dystrophies
- Limb Girdle Muscular Dystrophies
- Limb-Girdle Muscular Dystrophy
- Limb Girdle Muscular Dystrophy
- Muscular Dystrophy, Limb-Girdle
- Muscular Dystrophy, Limb Girdle
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Below are MeSH descriptors whose meaning is more general than "Muscular Dystrophies, Limb-Girdle".
Below are MeSH descriptors whose meaning is more specific than "Muscular Dystrophies, Limb-Girdle".
This graph shows the total number of publications written about "Muscular Dystrophies, Limb-Girdle" by people in UAMS Profiles by year, and whether "Muscular Dystrophies, Limb-Girdle" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2023 | 1 | 0 | 1 | | 2017 | 1 | 0 | 1 |
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Below are the most recent publications written about "Muscular Dystrophies, Limb-Girdle" by people in Profiles over the past ten years.
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Morales-Rosado JA, Schwab TL, Macklin-Mantia SK, Foley AR, Pinto E Vairo F, Pehlivan D, Donkervoort S, Rosenfeld JA, Boyum GE, Hu Y, Cong ATQ, Lotze TE, Mohila CA, Saade D, Bharucha-Goebel D, Chao KR, Grunseich C, Bruels CC, Littel HR, Estrella EA, Pais L, Kang PB, Zimmermann MT, Lupski JR, Lee B, Schellenberg MJ, Clark KJ, Wierenga KJ, B?nnemann CG, Klee EW. Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy. Am J Hum Genet. 2023 06 01; 110(6):989-997.
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Osborn DPS, Pond HL, Mazaheri N, Dejardin J, Munn CJ, Mushref K, Cauley ES, Moroni I, Pasanisi MB, Sellars EA, Hill RS, Partlow JN, Willaert RK, Bharj J, Malamiri RA, Galehdari H, Shariati G, Maroofian R, Mora M, Swan LE, Voit T, Conti FJ, Jamshidi Y, Manzini MC. Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sj?gren Syndrome and Dystroglycanopathy. Am J Hum Genet. 2017 Mar 02; 100(3):537-545.
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