Limb–girdle muscular dystrophy (LGMD) is a genetically heterogeneous group of rare muscular dystrophies that share a set of clinical characteristics....
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muscular dystrophies include Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, and myotonic dystrophy, whereas limb–girdle muscular dystrophy...
29 KB (2,231 words) - 00:04, 30 September 2024
Facioscapulohumeral muscular dystrophy (FSHD) is a type of muscular dystrophy, a group of heritable diseases that cause degeneration of muscle and progressive...
175 KB (16,431 words) - 20:09, 29 September 2024
include: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) Myotonic dystrophy Limb-Girdle (LGMD) Facioscapulohumeral dystrophy (FSHD) Congenital...
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autosomal dominant myopathy, classified as a congenital form of limb-girdle muscular dystrophy. There are two types of Bethlem myopathy, based on which type...
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Calpainopathy (redirect from Muscular dystrophy limb girdle type 2A, Erb type)
autosomal recessive limb-girdle muscular dystrophy (LGMD). It preferentially affects the muscles of the hip girdle and shoulder girdle. No disease modifying...
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(June 2010). "A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H". European Journal of Human Genetics. 18 (6): 636–641...
40 KB (3,236 words) - 17:28, 19 September 2024
Titin (category Muscular system)
myopathy, limb-girdle muscular dystrophy type 2J, familial dilated cardiomyopathy 9, hypertrophic cardiomyopathy and tibial muscular dystrophy. Further...
45 KB (4,680 words) - 16:38, 13 September 2024
Caveolin (section Muscular dystrophy)
implicated in the development of certain types of muscular dystrophy (limb-girdle muscular dystrophy). Tang Z, Scherer PE, Okamoto T, Song K, Chu C, Kohtz...
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disorders. Duchenne muscular dystrophy Becker muscular dystrophy DMD-associated dilated cardiomyopathy Limb girdle muscular dystrophies (LGMD) as defined...
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recessive limb girdle muscular dystrophy". www.orpha.net. Retrieved 2019-04-16. "Orphanet: Autosomal dominant limb girdle muscular dystrophy". www.orpha...
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and WWS. MDC1C also includes Limb-Girdle muscular dystrophy. In terms of the mechanism of congenital muscular dystrophy, one finds that though there are...
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Emery–Dreifuss muscular dystrophy Limb-girdle muscular dystrophy RYR1-associated multiminicore disease Phenotypes of overlap between Ullrich congenital muscular dystrophy...
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myopathy and limb-girdle muscular dystrophy.[citation needed] Limb girdle syndrome is weakness located and concentrated around the proximal limb muscles....
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Feldman, Jerry; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.), "Limb-Girdle Muscular Dystrophy Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY",...
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Glycogen storage disease (redirect from Muscular phosphorylase kinase deficiency)
the proximal muscles, would be an inflammatory myopathy or a limb-girdle muscular dystrophy. For those with exercise intolerance and/or proximal muscle...
68 KB (6,092 words) - 16:38, 9 September 2024
conditions include amyotrophic lateral sclerosis, myasthenia gravis, and muscular dystrophy.[citation needed] The first step before insertion of the needle electrode...
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Although limb-girdle muscular dystrophies (LGMDs) involve fixed muscle weakness, LGMDR8 also involves muscle fatigue; as do some limb-girdle muscular...
84 KB (8,872 words) - 10:43, 13 September 2024
2p12-14, results in several types of muscular dystrophy; including Miyoshi myopathy (MM), Limb-girdle muscular dystrophy type 2B (LGMD2B) and Distal Myopathy...
28 KB (3,501 words) - 07:39, 16 August 2024
LAMA2 muscular dystrophy (LAMA2-MD) is a genetically determined muscle disease caused by pathogenic mutations in the LAMA2 gene. It is a subtype of a larger...
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Distal myopathy (redirect from Distal muscular dystrophies)
novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy". Nature Genetics. 20 (1): 31–6. doi:10.1038/1682. PMID 9731526...
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was discovered that a mutation of TNPO3 that causes type 1F limb-girdle muscular dystrophy (LGMD1F) also causes innate resistance to HIV-1. TNP03 was known...
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Epidermolysis bullosa simplex (redirect from Epidermolysa bullosa simplex and limb girdle muscular dystrophy)
17q12-q21 (KRT5), 12q13 (KRT14) 131760 Epidermolysis bullosa simplex with muscular dystrophy A rare clinical entity, and is the only epidermolytic epidermolysis...
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matrix. Abnormal levels of integrin beta-1D have been found in limb girdle muscular dystrophy and polyneuropathy. Integrin beta-1 can exist as different isoforms...
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The Jerry Lewis MDA Labor Day Telethon (redirect from Muscular dystrophy telethon)
in the United States to raise money for the Muscular Dystrophy Association (MDA). The Muscular Dystrophy Association was founded in 1950 with hopes of...
114 KB (12,648 words) - 07:58, 15 September 2024
calpain 3 (also known as p94) is the gene product responsible for limb-girdle muscular dystrophy type 2A, calpain 10 has been identified as a susceptibility...
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Limb transversal defect cardiac anomaly Limb-body wall complex Limb-girdle muscular dystrophy Lindsay–Burn syndrome Lindstrom syndrome Linear hamartoma syndrome...
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Mesoangioblast (section Muscular Dystrophy)
skeletal muscle in animal models of Duchenne muscular dystrophy (DMD) and limb-girdle muscular dystrophy (LGMD). Experiments in alpha-sarcoglycan (α-SG)...
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variations in muscular dystrophy progression dependent on the sarcoglycan gene affected. GeneReviews/NCBI/NIH/UW entry on Limb-Girdle Muscular Dystrophy Overview...
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results with a new gene therapy candidate for patients with Limb-Girdle muscular dystrophy; two months after receiving a single treatment, muscles from...
16 KB (1,515 words) - 10:42, 20 September 2024