Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB
نویسندگان
چکیده
منابع مشابه
Novel mutations in MYO7A and USH2A in Usher syndrome.
PURPOSE Usher syndrome is an autosomal recessive disease associating retinitis pigmentosa and neurosensory deafness. Three clinical types (USH1, USH2, USH3) and 11 mutated genes or loci have been described. Mutations in MYO7A and USH2A are responsible for about 40% and 60% of Usher syndromes type 1 and 2, respectively. These genes were screened in a series of patients suffering from Usher syndr...
متن کاملRetinal disease course in Usher syndrome 1B due to MYO7A mutations.
PURPOSE. To determine the disease course in Usher syndrome type IB (USH1B) caused by myosin 7A (MYO7A) gene mutations. METHODS. USH1B patients (n = 33, ages 2-61) representing 25 different families were studied by ocular examination, kinetic and chromatic static perimetry, dark adaptometry, and optical coherence tomography (OCT). Consequences of the mutant alleles were predicted. RESULTS. All M...
متن کاملMYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome
PURPOSE To analyze the spectrum of sequence variants in the MYO7A and USH2A genes in a group of Italian patients affected by Usher syndrome (USH). METHODS Thirty-six Italian patients with a diagnosis of USH were recruited. They received a standard ophthalmologic examination, visual field testing, optical coherence tomography (OCT) scan, and electrophysiological tests. Fluorescein angiography ...
متن کاملa frame semantic approach to the study of translating cultural scripts in salingers franny and zooey
the frame semantic theory is a nascent approach in the area of translation studies which goes beyond the linguistic barriers and helps us to incorporate cognitive and cultural factors to the study of translation. based on rojos analytical model (2002b), which centered in the frames or knowledge structures activated in the text, the present research explores the various translation problems that...
15 صفحه اولidentifying the strategies persian efl learners use in reading an expository text in english and examining its relation to reading-proficiency and motivation: a think-aloud study
هدف اصلی از این مطالعه بررسی نوع و میزان استراتژی هایی بود که دانشجویان فارسی زبان رشته ی زبان انگلیسی در حین خواندن یک متن انگلیسی به کار گرفتند. این مطالعه همچنین به بررسی تفاوت های استراتژی های مورد استفاده بین دارندگان سطح بالا و پایین درک مطلب پرداخت. نوع همبستگی بین استراتژی به کار گرفته و درک مطلب از یک سو و استراتژی به کار گرفته و انگیزه از سوی دیگر نیز در این تحقیق مورد آزمایش قرار گرف...
15 صفحه اولذخیره 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: Clinical Case Reports
سال: 2020
ISSN: 2050-0904,2050-0904
DOI: 10.1002/ccr3.3146