Central core disease: clinical, pathological, and genetic features
نویسندگان
چکیده
منابع مشابه
Central core disease: clinical, pathological, and genetic features.
Central core disease (CCD) is a dominantly inherited congenital myopathy allelic to malignant hyperthermia (MH) caused by mutations in the RYR1 gene on chromosome 19q13.1. Eleven individuals with RYR1 mutations are described. Four index cases showed features consistent with a congenital myopathy (hypotonia, delayed motor milestones, and skeletal abnormalities including congenital hip dislocatio...
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Objectives: To investigate the clinical and pathological characteristics of central core disease (CCD) in China. Methods: A retrospective analysis was performed on the clinical data of 40 patients with CCD who presented at our department or other hospitals from 1986 to 2013. Muscle histochemical staining was used to study the muscular pathological characteristics of patients with CCD. Results: ...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 2003
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.88.12.1051