Naslov
CLINICAL, GENETIC AND EPIDEMIOLOGIC CHARACTERISTICS OF MAJOR LIMB GIRDLE MUSCULAR DYSTROPHIES (LGMDs)

Autori
Canki-Klain, Nina

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
GENETIKA 2006.Book of Abstracts/Knjiga povzetkov.4th Congress of Slovenian Genetic Society and 2nd Meeting of the Slovenian Society of Human Genetics with International Participation, September, 28th-October, 1, 2006, Biološko središče, Večna pot 111, Ljubljana / Metka Filipič in Irena Zajc - Ljubljana : Birotisak, 2006

Skup
4th Congress of Skovenian Genetic Society ans 2nd meeting of the Slovenian Society of Human Genetics with international participation

Mjesto i datum
Ljubljana, Slovenija, 28.09.2006. - 01.10.2006

Vrsta sudjelovanja
Pozvano predavanje

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Limb girdle muscular dystrophies; autosomal recessive; LGMD2; 2A; 2I; 2B

Sažetak
LGMDs are a heterogeneous group of genetic disorders characterized by progressive muscle wasting and weakness with onset in the proximal muscles. These diseases present a large clinical variability regarding age of onset, rate of progression, pattern of skeletal muscle involvement, heart damage and mode of inheritance, with both autosomal recessive and dominant forms. The most common clinical forms are autosomal recessive classified as LGMD 2 (A-J). In general, they have more severe course compared to dominant forms so-called LGMD1 (A-F). All of them are incurable and often life-threatening disorders of children and young adults. Therefore they represent a considerable health and economic burden, not only on the patients and their families, but also on the whole community. Our inability to treat these affections effectively makes preventing any recurrence very important. For this reason it is necessary to know their exact genetic cause to provide adequate genetic counseling, to predict risks for the patient such as the development of cardiomyopathy, and to be able to take advantage of specific treatment when they become available. Difficulties in classification are often caused by the relatively common sporadic occurrence of autosomal recessive forms as well as by interfamilial clinical variability. Molecular genetic studies have demonstrated different causative mutations in the genes encoding a disparate collection of proteins involved in all aspects of muscle cell biology. These novel genes encode highly diverse proteins with different localization within or at the surface of the skeletal muscle fiber, such as the sarcolemma, the sarcomere, the muscle cytosol, the nucleus and the glycosilation pathway enzyme. Epidemiological data vary especially in LGMD2.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

Napomena
Sažetak na slovenskom jeziku

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