Autosomal dominant limb-girdle muscular dystrophy: Leyden–Möbius pelvifemoral form

Autor:	N. A. Shnayder, T. Ya. Nikolayeva, E. N. Boroeva, G. M. Pshennikova, N. V. Luginov, Yu. S. Panina
Jazyk:	ruština
Rok vydání:	2015
Předmět:	neuromuscular disorder erb's muscular dystrophy limb-girdle muscular dystrophy progressive muscular dystrophy myotilinopathy laminopathy caveolinopathy human genetics cardiomyopathy muscle magnetic resonance imaging Neurology. Diseases of the nervous system RC346-429
Zdroj:	Нервно-мышечные болезни, Vol 0, Iss 1, Pp 46-61 (2015)
Druh dokumentu:	article
ISSN:	2222-8721 2413-0443
DOI:	10.17650/2222-8721-2013-0-1-46-61
Popis:	The paper considers current approaches to the clinical laboratory diagnosis of limb-girdle muscular dystrophy with emphasis on its autosomal dominant forms. The authors describe their clinical observation of a case of late diagnosis of the pelvifemoral form of autosomal dominant limbgirdle muscular dystrophy in a 37-year-old patient.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/b3625c046fe24a17a6b0e9e7852640da Zobrazit plný text záznamu View record in DOAJ