Clinical utility gene card for: Central core disease
نویسندگان
چکیده
منابع مشابه
The clinical utility of gene testing for Alzheimer's disease
Alzheimer's disease (AD) is the largest cause of dementia, affecting 35.6 million people in 2010. Amyloid precursor protein, presenilin 1 and presenilin 2 mutations are known to cause familial early-onset AD, whereas apolipoprotein E (APOE) ε4 is a susceptibility gene for late-onset AD. The genes for phosphatidylinositol-binding clathrin assembly protein, clusterin and complement receptor 1 hav...
متن کاملCentral core disease
Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy. Prevalence is unknown but the condition is probably more common than other congenital myopathies. CCD typically presents in infancy with hypotonia and motor developmental delay and is characterized by predominantly proximal weakness pr...
متن کاملCentral 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...
متن کاملCentral core disease in China: a clinical and pathological study
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: ...
متن کاملMyotubular/centronuclear myopathy and central core disease.
The term congenital myopathy is applied to muscle disorders presenting with generalized muscle weakness and hypotonia from early infancy with delayed developmental milestones. The congenital myopathies have been classified into various categories based on morphological findings on muscle biopsy. Although the clinical symptoms may seem homogenous, the genetic basis is remarkably variable. This r...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2011
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2011.179