[Facio-scapula-humeral muscular dystrophy: clinical picture and molecular genetics].
Facioscapulohumeral muscular dystrophy (FSHD) is a disorder of muscle with a progressive, often asymmetric wasting and weakness of facial, shoulder girdle and lower limbs muscles. No FSHD gene has been identified so far. The FSHD locus is known to be 4q35. The paper presents the clinical picture of FSHD including atypical cases, as well as its inter- and intrafamilial clinical variability. Molecular pathology and diagnostics of the condition are discussed, with particular attention paid to DNA analysis in FSHD.
Dorobek
Małgorzata
M
Zespołu Badawczo-Leczniczego Chorób Nerwowo-Mieśniowych, Instytut Medycyny Doświadczalnej i Klinicznej, PAN w Warszawie im. H.J. Mossakowskiego. mdorobek@amwaw.edu.pl
D000293:Adolescent; D000328:Adult; D002648:Child; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D053938:DNA Fragmentation / Q000235:genetics; D004252:DNA Mutational Analysis; D004576:Electromyography; D005260:Female; D006801:Humans; D008297:Male; D008967:Molecular Biology / Q000379:methods; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D017354:Point Mutation / Q000235:genetics