Abstract：
UNASSIGNED: Pathogenic mutations in the smooth muscle myosin heavy chain gene, MYH11, cause megacystis megacolon intestinal hypoperistalsis syndrome and other forms of chronic intestinal pseudo-obstruction. Evaluation of intestinal tissues from affected patients is often performed before mutational analysis, but the pathological findings of MYH11-variant visceral myopathy have not been well defined.
UNASSIGNED: Light microscopic, immunohistochemical, and ultrastructural findings from multiple intestinal samples from 2 patients with MYH11-variant visceral myopathy were reviewed, including MYH11-specific immunohistochemistry. The findings were compared with intestinal samples from patients with gamma-smooth muscle actin (ACTG2)-variant visceral myopathy and non-pseudo-obstruction controls.
UNASSIGNED: Apart from non-specific changes (e.g., muscle hypertrophy and distension-related muscularis propria necrosis), no alterations were identified by routine histopathological evaluation or electron microscopy. Immunohistochemistry with antibodies against a battery of smooth muscle proteins, including MYH11, revealed indistinguishable patterns of immunoreactivity in the muscularis propria of both patients and controls.
UNASSIGNED: Myopathic morphological or immunohistochemical changes may not be present in intestinal specimens from patients with MYH11-variant visceral myopathy. Molecular genetic studies should be considered for patients with chronic intestinal pseudo-obstruction and normal or non-specific pathology findings.
UNASSIGNED: Light microscopic, immunohistochemical, and ultrastructural findings from multiple intestinal samples from 2 patients with MYH11-variant visceral myopathy were reviewed, including MYH11-specific immunohistochemistry. The findings were compared with intestinal samples from patients with gamma-smooth muscle actin (ACTG2)-variant visceral myopathy and non-pseudo-obstruction controls.
UNASSIGNED: Apart from non-specific changes (e.g., muscle hypertrophy and distension-related muscularis propria necrosis), no alterations were identified by routine histopathological evaluation or electron microscopy. Immunohistochemistry with antibodies against a battery of smooth muscle proteins, including MYH11, revealed indistinguishable patterns of immunoreactivity in the muscularis propria of both patients and controls.
UNASSIGNED: Myopathic morphological or immunohistochemical changes may not be present in intestinal specimens from patients with MYH11-variant visceral myopathy. Molecular genetic studies should be considered for patients with chronic intestinal pseudo-obstruction and normal or non-specific pathology findings.
摘要：
未经证实：平滑肌肌球蛋白重链基因的致病突变，MYH11，引起巨结肠肠蠕动综合征和其他形式的慢性肠假性梗阻。对受影响患者的肠组织的评估通常在突变分析之前进行，但是MYH11变异型内脏肌病的病理学发现尚未明确。
未经评估：光学显微镜，免疫组织化学，并回顾了2例MYH11变异型内脏肌病患者的多个肠道样本的超微结构发现，包括MYH11特异性免疫组织化学。将研究结果与γ-平滑肌肌动蛋白（ACTG2）变异型内脏肌病和非假性梗阻对照患者的肠道样本进行比较。
未经评估：除了非特定更改（例如，肌肉肥大和扩张相关的固有肌层坏死)，通过常规组织病理学评估或电子显微镜未发现改变.用一系列平滑肌蛋白抗体进行免疫组织化学，包括MYH11在内，揭示了患者和对照组固有肌层的免疫反应性模式。
UNASSIGNED：MYH11变异型内脏肌病患者的肠道标本中可能不存在肌病形态学或免疫组织化学改变。对于慢性假性肠梗阻和正常或非特异性病理结果的患者，应考虑进行分子遗传学研究。
未经评估：光学显微镜，免疫组织化学，并回顾了2例MYH11变异型内脏肌病患者的多个肠道样本的超微结构发现，包括MYH11特异性免疫组织化学。将研究结果与γ-平滑肌肌动蛋白（ACTG2）变异型内脏肌病和非假性梗阻对照患者的肠道样本进行比较。
未经评估：除了非特定更改（例如，肌肉肥大和扩张相关的固有肌层坏死)，通过常规组织病理学评估或电子显微镜未发现改变.用一系列平滑肌蛋白抗体进行免疫组织化学，包括MYH11在内，揭示了患者和对照组固有肌层的免疫反应性模式。
UNASSIGNED：MYH11变异型内脏肌病患者的肠道标本中可能不存在肌病形态学或免疫组织化学改变。对于慢性假性肠梗阻和正常或非特异性病理结果的患者，应考虑进行分子遗传学研究。
