Guidelines on clinical presentation and management of nondystrophic myotonias
نویسندگان
چکیده
منابع مشابه
effect of oral presentation on development of l2 learners grammar
this experimental study has been conducted to test the effect of oral presentation on the development of l2 learners grammar. but this oral presentation is not merely a deductive instruction of grammatical points, in this presentation two hypotheses of krashen (input and low filter hypotheses), stevicks viewpoints on grammar explanation and correction and widdowsons opinion on limited use of l1...
15 صفحه اولSpectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses.
Several heritable forms of myotonia and periodic paralysis are caused by missense mutations in the voltage-gated sodium channel of skeletal muscle. Mutations produce gain-of-function defects, either disrupted inactivation or enhanced activation. Both defects result in too much inward Na current which may either initiate pathologic bursts of action potentials (myotonia) or cause flaccid paralysi...
متن کاملlangauge needs analysis of undergraduate business management and economics students
the aim of conducting this study was to investigate the foreign language learning needs of undergraduate economics students and business management students in faculties of social sciences of alzahra and azad naragh university. in the study, which was designed on the basis of a qualitative-quantitative basis using interviews and questionnaires, 146 female undergraduate business management as we...
15 صفحه اولAn Observation on Clinical Presentation and Management of Obstructive Jaundice
Introduction Jaundice is a frequent manifestation of biliary tract disorders and evaluation of obstructive jaundice is a common problem faced by general surgeons. This study was undertaken to highlight the etiological spectrum, treatment outcome of obstructive jaundice in our setting. Methods Patients of obstructive jaundice admitted from September 2009 to September 2011 were taken up for the s...
متن کاملX-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of very long-chain fatty acids (VLCFA; ≥ C22). A defect in ALDP results in elevated levels of VLCFA in plasma and tissues. The clinical spectrum in males with X-ALD ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Muscle & Nerve
سال: 2020
ISSN: 0148-639X,1097-4598
DOI: 10.1002/mus.26887