Central core disease

Sheffali Gulati; Amandeep Salhotra; M. C. Sharma; Chitra Sarkar; Veena Kalra

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Central core disease

机译：中枢核心疾病

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摘要

Central core disease is a congenital myopathy characterized by generalized hypotonia, muscle weakness and presence of central cores on muscle biopsy. It generally presents during infancy. It is familial with autosomal dominant inheritance [Chromosome 19q13.1; Gene Locus RyR1 (Ryanodine receptor gene)]. We report here two cases of central core disease in a 3-year-old male child and 8 year old female child.

机译：中枢核心疾病是一种先天性肌病，其特征是全身性肌张力低下，肌肉无力和肌肉活检中存在中枢核心。它通常在婴儿期出现。它是家族性，具有常染色体显性遗传[染色体19q13.1;基因座RyR1（Ryanodine受体基因）]。我们在此报告2例3岁男婴和8岁女婴的中枢核心疾病。

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来源
《Indian Journal of Pediatrics》 |2004年第11期|1021-1024|共4页
作者
Sheffali Gulati; Amandeep Salhotra; M. C. Sharma; Chitra Sarkar; Veena Kalra;
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作者单位

Department of Pediatrics, All India Institute of Medical Sciences, 110029 New Delhi, India;

Department of Pediatrics, All India Institute of Medical Sciences, 110029 New Delhi, India;

Department of Pediatrics, All India Institute of Medical Sciences, 110029 New Delhi, India;

Department of Pediatrics, All India Institute of Medical Sciences, 110029 New Delhi, India;

Department of Pediatrics, All India Institute of Medical Sciences, 110029 New Delhi, India;

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原文格式 PDF
正文语种 eng
中图分类
关键词
Central core disease; Congenital myopathy; Central cores; Muscle diseases;

机译：中枢核心疾病;先天性肌病;中央核心;肌肉疾病;

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专利

1. Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes [J] . Ana Ferreiro, Clemens?R. Müller, Francesco Muntoni, The biochemical journal . 2006,第2期

机译：在永生化淋巴细胞中表达的多微核心疾病和中枢核心疾病患者中鉴定出的带有三个氨基酸取代的ryanodine受体的功能特性
2. Pilot trial of salbutamol in central core and multi-minicore diseases. [J] . Messina S, Hartley L, Main M, Neuropediatrics . 2004,第5期

机译：沙丁胺醇用于中枢核心和多微核心疾病的先导试验。
3. Mild Clinical Features and Histopathologically Atypical Cores in Two Korean Families with Central Core Disease Harboring RYR1 Mutations at the C-Terminal Region [J] . Jung Na-Yeon, Park Yeong-Eun, Shin Jin-Hong, Journal of Clinical Neurology . 2015,第1期

机译：两个韩国中枢核心疾病在C末端区域携带RYR1突变的韩国家庭的轻度临床特征和组织病理学非典型核心
4. Use of Eigenvector Centrality to Rank the Vertices in a Disease-Disease Network [C] . Md Atiqur Rahman, Mahzabin Akhter, Natarajan Meghanathan International Conference on Information Technology - New Generations . 2019

机译：使用特征传染媒介中心度以在疾病网络中排列顶点
5. Altered Type 1 Ryanodine Receptor Activity and Functional Rescue In a Mouse Model of Central Core Disease. [D] . Loy, Ryan Eric. 2010

机译：1型Ryanodine受体活性和中枢核心疾病小鼠模型中的功能抢救改变。
6. Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease expressed in immortalized lymphocytes [O] . Sylvie Ducreux, Francesco Zorzato, Ana Ferreiro, 2006

机译：在永生化淋巴细胞中表达的患有多微核心疾病和中枢核心疾病的患者中鉴定出的带有三个氨基酸取代的ryanodine受体的功能特性
7. Ankylosing spondylitis and central core disease: case report Espondilite anquilosante e doença do core central: relato de caso [O] . Rosana Herminia Scola, Kátia Lin, Fábio Massaiti Iwamoto, 2003

机译：强直性脊柱炎和中心核心疾病：病例报告强直性脊柱炎和中心核心疾病：病例报告

Central core disease

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