Dorobek Małgorzata
Zespołu Badawczo-Leczniczego Chorób Nerwowo-Mieśniowych, Instytut Medycyny Doświadczalnej i Klinicznej, PAN w Warszawie im. H.J. Mossakowskiego.
Neurol Neurochir Pol. 2003 Jan-Feb;37(1):151-9.
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.
面肩肱型肌营养不良症（FSHD）是一种肌肉疾病，其特征为面部、肩胛带和下肢肌肉进行性、通常不对称的萎缩和无力。迄今为止，尚未鉴定出FSHD基因。已知FSHD基因座位于4q35。本文介绍了FSHD的临床表现，包括非典型病例，以及其家族间和家族内的临床变异性。文中还讨论了该疾病的分子病理学和诊断方法，尤其关注FSHD中的DNA分析。
