Mathews K D, Rapisarda D, Bailey H L, Murray J C, Schelper R L, Smith R
University of Iowa College of Medicine, Department of Pediatrics, Iowa City, USA.
J Neuropathol Exp Neurol. 1995 Jul;54(4):601-6. doi: 10.1093/whq/54.4.601.
Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant disease of unknown pathogenesis which is characterized by weakness of the face and shoulder girdle. It is associated with a sensorineural hearing loss which may be subclinical. FSHD has been mapped to the distal most portion of 4q35, although the gene has not yet been identified. Distal 4q has homology with a region of mouse chromosome 8 to which a mouse mutant, myodystrophy (myd), has been mapped. Muscle from homozygotes for the myd mutation appears dystrophic, showing degenerating and regenerating fibers, inflammatory infiltrates, central nuclei, and variation in fiber size. Brainstem auditory evoked potentials reveal a sensorineural hearing loss in myd homozygotes. Based on the homologous genetic map locations, and the phenotypic syndrome of dystrophic muscle with sensorineural hearing loss, we suggest that myd represents an animal model for the human disease FSHD.
面肩肱型肌营养不良症（FSHD）是一种常染色体显性疾病，发病机制不明，其特征为面部和肩胛带肌无力。它与可能为亚临床症状的感觉神经性听力损失有关。FSHD基因已被定位到4q35的最远端，不过该基因尚未被识别。4q远端与小鼠8号染色体的一个区域具有同源性，小鼠突变体肌营养不良症（myd）已被定位到该区域。myd突变纯合子的肌肉呈现出营养不良的状态，表现为纤维退变和再生、炎性浸润、中央核以及纤维大小各异。脑干听觉诱发电位显示myd纯合子存在感觉神经性听力损失。基于同源基因图谱位置以及伴有感觉神经性听力损失的营养不良性肌肉的表型综合征，我们认为myd代表了人类疾病FSHD的一种动物模型。
