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
|
| Concept/Terms |
Muscular Dystrophies, Limb-Girdle- Muscular Dystrophies, Limb-Girdle
- Muscular Dystrophies, Limb Girdle
- Myopathic Limb-Girdle Syndrome
- Muscular Dystrophy, Limb-Girdle
- Muscular Dystrophy, Limb Girdle
- Limb-Girdle Syndrome
- Limb-Girdle Muscular Dystrophies
- Limb Girdle Muscular Dystrophies
- Limb-Girdle Muscular Dystrophy
- Limb Girdle Muscular Dystrophy
|
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 this website by year, and whether "Muscular Dystrophies, Limb-Girdle" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2004 | 1 | 0 | 1 |
| 2007 | 0 | 1 | 1 |
| 2010 | 2 | 0 | 2 |
| 2011 | 1 | 1 | 2 |
| 2013 | 1 | 0 | 1 |
| 2017 | 1 | 0 | 1 |
| 2020 | 1 | 1 | 2 |
| 2021 | 1 | 0 | 1 |
| 2022 | 1 | 0 | 1 |
| 2023 | 1 | 0 | 1 |
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Below are the most recent publications written about "Muscular Dystrophies, Limb-Girdle" by people in Profiles.
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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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2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders. Heart Rhythm. 2022 10; 19(10):e61-e120.
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Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses. Am J Med Genet A. 2022 03; 188(3):735-750.
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Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease. Muscle Nerve. 2021 03; 63(3):304-310.
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Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy. Orphanet J Rare Dis. 2020 06 23; 15(1):160.
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POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, a-dystroglycan hypoglycosylation and a distinctive radiological pattern. Acta Neuropathol. 2020 03; 139(3):565-582.
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Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 (Rumi). Stem Cell Res. 2017 10; 24:102-105.
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Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of a-dystroglycan. Am J Hum Genet. 2013 Jul 11; 93(1):29-41.
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Impaired regeneration in LGMD2A supported by increased PAX7-positive satellite cell content and muscle-specific microrna dysregulation. Muscle Nerve. 2013 May; 47(5):731-9.
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Cardiac management in neuromuscular diseases. Phys Med Rehabil Clin N Am. 2012 Nov; 23(4):855-68.