Is the serum creatine kinase level elevated in congenital myasthenic syndrome?
نویسنده
چکیده
810 Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients G Querin, C Bertolin, E Da Re, M Volpe, G Zara, E Pegoraro, N Caretta, C Foresta, M Silvano, D Corrado, M Iafrate, L Angelini, L Sartori, M Pennuto, A Gaiani, L Bello, C Semplicini, D Pareyson, V Silani, M Ermani, A Ferlin, G Sorarù, on behalf of the Italian Study Group on Kennedy’s disease
منابع مشابه
Comparison of pregnancy-associated plasma protein-A, troponin and creatine kinase-MB levels in acute coronary syndrome
Background: Early diagnosis and proper treatment of patient with acute coronary syndrome (ACS) and ischemic heart disease are important in determining prognosis, preventing adverse effects, and may even save lives. In this study, the level of pregnancy-associated plasma protein-A (PAPP-A) in ACS patients was compared with the control group, in addition to cardiac Troponin (cTn) and creatine kin...
متن کاملMutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies
Congenital myasthenic syndromes are inherited disorders that arise from impaired signal transmission at the neuromuscular junction. Mutations in at least 20 genes are known to lead to the onset of these conditions. Four of these, ALG2, ALG14, DPAGT1 and GFPT1, are involved in glycosylation. Here we identify a fifth glycosylation gene, GMPPB, where mutations cause congenital myasthenic syndrome....
متن کاملOp-brai150189 2493..2504
Congenital myasthenic syndromes are inherited disorders that arise from impaired signal transmission at the neuromuscular junction. Mutations in at least 20 genes are known to lead to the onset of these conditions. Four of these, ALG2, ALG14, DPAGT1 and GFPT1, are involved in glycosylation. Here we identify a fifth glycosylation gene, GMPPB, where mutations cause congenital myasthenic syndrome....
متن کاملبررسی اثر عصاره گیاه مریم گلی بر سطح سرمی آنزیم های آلکالین فسفاتاز و کراتین کیناز در موش های صحرایی نر
Background : Studies show that there is association between Salvia officinalis extract administration and liver and heart functions. The main aim of this study was to determine the effects of Salvia officinalis extract on serum level of creatine kinase and alkaline phosphatase in male rats. Methods : In this laboratory experimental study, m ale wistar rats were randomly divided into control...
متن کاملCongenital muscular dystrophy due to laminin α2 (merosin) deficiency (MDC1A) in an ethnic Malay girl
We report the first known ethnic Malay patient with laminin alpha-2 (merosin) deficiency (MDC1A), a subtype of congenital muscular dystrophy (CMD)as a result of novel LAMA2 gene mutations. The 21-month-old female presented with hypotonia at birth and gross motor delay of her distal lower limbs. Physical examination showed generalised hypotonia, hyporeflexia and myopathic facies but good cogniti...
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ورودعنوان ژورنال:
- Journal of neurology, neurosurgery, and psychiatry
دوره 87 8 شماره
صفحات -
تاریخ انتشار 2016