Krasnianski Michael, Eger Katharina, Neudecker Stephan, Jakubiczka Sibylle, Zierz Stephan
Department of Neurology, Martin-Luther-University Halle-Wittenberg, Halle (Salle), Germany.
Arch Neurol. 2003 Oct;60(10):1421-5. doi: 10.1001/archneur.60.10.1421.
Facioscapulohumeral muscular dystrophy (FSHD) is associated with a deletion on chromosome 4q35. Recent studies have shown that this deletion is found in patients with other phenotypes in addition to those with the classic Landouzy-Dejerine FSHD phenotype.
To examine patients with atypical phenotypes and an FSHD deletion on chromosome 4q35.
Clinical characterization and genotype-phenotype correlation.
University hospital.
Forty-one symptomatic subjects with deletions on chromosome 4q35.
We found 6 patients with atypical FSHD. Three (from a single family with FSHD) had additional symptoms of chronic progressive external ophthalmoplegia (4q35 EcoRI/BlnI fragment size, 20 kilobase [kb]), and 3 patients (1 with sporadic disease and 2 from a single family) had facial-sparing scapulohumeral dystrophy (4q35 EcoRI/BlnI fragment size, 30 and 34 kb, respectively).
The clinical presentations in patients with FSHD-associated short fragments on chromosome 4q35 are not restricted to the classic FSHD form, but constitute a variety of clinical manifestations. There seems to be no clear correlation between the atypical subtype and the DNA fragment size due to the deletion.
面肩肱型肌营养不良症（FSHD）与4号染色体q35区域的缺失有关。最近的研究表明，除了具有经典的兰杜齐-德热里纳型FSHD表型的患者外，在其他表型的患者中也发现了这种缺失。
研究具有非典型表型且4号染色体q35区域存在FSHD缺失的患者。
临床特征分析及基因型-表型相关性研究。
大学医院。
41名有4号染色体q35区域缺失的有症状受试者。
我们发现6例非典型FSHD患者。其中3例（来自一个患有FSHD的家族）伴有慢性进行性外眼肌麻痹的额外症状（4号染色体q35区域EcoRI/BlnI片段大小为20千碱基[kb]），3例患者（1例散发性疾病患者和2例来自同一个家族）患有面肌保留型肩肱型肌营养不良症（4号染色体q35区域EcoRI/BlnI片段大小分别为30 kb和34 kb）。
4号染色体q35区域存在与FSHD相关短片段的患者，其临床表现不限于经典的FSHD形式，而是构成了多种临床表现。由于缺失导致的非典型亚型与DNA片段大小之间似乎没有明显的相关性。
