نتایج جستجو برای: muscular dystrophy

تعداد نتایج: 52759  

Journal: :iranian journal of child neurology 0
mohammad barzegar 1. pediatric health research center, tabriz university of medical sciences, tabriz, iran. 2. division of pediatric neurology, tabriz children’s hospital, tabriz university of medical sciences, tabriz, iran parinaz habibi 1. pediatric health research center, tabriz university of medical sciences, tabriz, iran. mortaza mortaza bonyady 3. center of excellence for biodiversity, department of molecular medical genetics, faculty of natural sciences university of tabriz, tabriz, iran vahideh topchizadeh 4. physical medicine & rehabilitation research center, tabriz university of medical sciences, tabriz, iran shadi shiva* 1. pediatric health research center, tabriz university of medical sciences, tabriz, iran. 2. division of pediatric neurology, tabriz children’s hospital, tabriz university of medical sciences, tabriz, iran

how to cite this article: barzegar m, habibi p, bonyady m, topchizadeh v, shiva sh. exon deletion pattern in duchene muscular dystrophy in north west of iran. iran j child neurol. 2015 winter; 9(1): 42-48. abstract objective duchene and becker muscular dystrophy (dmd/ bmd) are x-linked disorders that both are the result of heterogeneous mutations in the dystrophin gene. the frequency and distri...

Journal: :acta medica iranica 0
fardeen ali malayeri department of neurogenetics, iranian center of neurological research, imam khomeini hospital , tehran university of medical sciences, tehran, iran. and department of clinical biochemistry, isfahan pharmaceutical sciences research center, school of pharmacy and pharmaceutical sciences, isfahan university of medical sciences, isfahan, iran. mojtaba panjehpour department of clinical biochemistry, isfahan pharmaceutical sciences research center, school of pharmacy and pharmaceutical sciences, isfahan university of medical sciences, isfahan, iran. ahmad movahedian department of clinical biochemistry, isfahan pharmaceutical sciences research center, school of pharmacy and pharmaceutical sciences, isfahan university of medical sciences, isfahan, iran. majid ghaffarpour iranian center of neurological research, imam khomeini hospital, tehran university of medical sciences, tehran, iran. gholam reza zamani department of neurology, children medical center, school of medicine, tehran university of medical sciences, tehran, iran. hajifaraj tabrizi department of medical genetics, school of medicine, tehran university of medical sciences, tehran, iran.

this study determines the value of linkage analysis using six rflp markers for carrier detection and prenatal diagnosis in familial dmd/bmd cases and their family members for the first time in the iranian population. we studied the dystrophin gene in 33 unrelated patients with clinical diagnosis of dmd or bmd. subsequently, we determined the rate of heterozygosity for six intragenic rflp marker...

ژورنال: بیهوشی و درد 2013

Aim and Background: Becker’s muscular dystrophy (BMD) is similar to the Duchenne’s muscular dystrophy, but the clinical course is milder.We introduced a patient with Becker Muscle Dystrophy who candidate for emergency cesarean section.Case report:A36-year-old woman, gestational age 31 weeks, with a history of Becker Muscle Dystrophy and fetal distress who candidate for emergency cesarean sectio...

Journal: :iranian journal of child neurology 0
parvaneh karimzadeh associate professor, pediatric neurology research center, shahid beheshti university of medical sciences, tehran, iran ahad ghazavi assistant professor, pediatric neurology research center, urmia university of medical sciences, urmia, iran

how to cite this article: karimzadeh p, ghazavi a. comparison of deflazacort and prednisone in duchenne muscular dystrophy. iranianjournal of child neurology 2012;6(1):5-12. objective duchenne muscular dystrophy (dmd) is a degenerative disease that usually becomes clinically detectable in childhood as progressive proximal weakness. no cure is yet available for dmd, but the use of steroids impro...

Journal: :genetics in the 3rd millennium 0
غلامرضا زمانی gholamreza zamani child neurologist, children's medical center, tehran university of medical sciences (tums)

muscular dystrophies are inherited disorders that cause progressive muscle weakness (myopathy) and atrophy (loss of muscle mass) due to defects in one or more genes required for normal muscle function. some of the genes responsible for these conditions have been identified .there are a number of different types of muscular dystrophy. the primary symptom for most types is muscle weakness, althou...

Journal: :genetics in the 3rd millennium 0
bita bozorgmehr mehdi vahid dastjerdi ariana kariminejad

facioscapulohumeral muscular dystrophy (fshd)is characterized by weakness of the facial, scapular muscles  and the dorsiflexors of the foot. severity in this disorder is highly variable. approximately 95% of individuals with fshd phenotype have type 1 fshd, with d4z4 allele of between one and ten repeat units and about 5% have type 2 fshd with mutations in the chromatin modifier smchd1gene whic...

Journal: :iranian journal of child neurology 0
yalda nilipor neuropathologist, mofid children hospital and myopathology lab of toos hospital, tehran, iran fakhreddin shariatmadari pediatric neurology research center, shahid beheshti university of medical sciences, tehran, iran fatemeh abdollah gorji msc, health information management clinical research development center , mofid children hospital , shahid beheshti university of medical sciences, tehran , iran mohsen rouzrokh assistant professor of pediatric surgery, shahid behehshti university medical of medical sciences, tehran, iran mohammad ghofrani 5. professor of pediatric neurology, pediatric research center, shahid beheshti university of medical sciences (sbmu), tehran, iran 6.professor of pediatric neurology, pediatric neurology department, mofid children hospital, faculty of medicine, shahid beheshti university of medical sciences, tehran, iran parvaneh karimzadeh 5. professor of pediatric neurology, pediatric research center, shahid beheshti university of medical sciences (sbmu), tehran, iran 6.professor of pediatric neurology, pediatric neurology department, mofid children hospital, faculty of medicine, shahid beheshti university of medical sciences, tehran, iran

how to cite this article: nilipor y, shariatmadari f, abdollah gorji f, rouzrokh m, ghofrani m, karimzadeh p, taghdiri mm,  delavarkasmaei h, ahmadabadi f, bakhshandeh bali mk, nemati h, saket s, jafari n, yaghini o, tonekaboni sh.  evaluation of one hundred pediatric muscle biopsies during a 2-year period in mofid children and toos hospitals. iran j child neurol. 2013 spring;7(2):17-21.   obje...

Journal: :iranian journal of pathology 2010
elahe keyhani jalal gharesouran kimia kahrizi yousef shafeghati hossein najmabadi

background and objective: becker muscular dystrophy (bmd) is a subtype of dystrophinopathies and designated as “mild form of dystrophinopathy”. the frequency rate of the disease is 1:18000 to 1:30000 in different populations and the symptoms are presented at about 8-9 years of age. the diagnostic panel composed of serum ceratin kinase (sck) measurement, electromyography (emg), and as a major co...

Journal: :iranian journal of neurology 0
marjan asadollahi loghman hospital, department of neurology, shahid beheshti university of medical sciences, tehran, iran. bibiseyedeh rezaiyan loghman hospital, department of neurology, shahid beheshti university of medical sciences, tehran, iran. hiva amjadi loghman hospital, department of neurology, shahid beheshti university of medical sciences, tehran, iran.

facioscapulohumeral muscular dystrophy (fshd) is a common inherited muscular dystrophy presented clinically with slowly progressive weakness and wasting of facial and limb muscles and rare bulbar muscle involvement. we present herein a 70-year-old man who was a known case of fshd with complaint of 15-day history of progressive difficulty in chewing and dysarthria and was found to have myastheni...

Journal: :iranian journal of child neurology 0
goknur haliloglu professor of pediatric neurology, hacettepe children’s hospital,ankara, turkey haluk topaloglu md,professor of pediatric neurology,department of child neurology,ankara, turkey

objective ullrich congenital muscular dystrophy is a rather severe type of congenital muscular dystrophy with early onset features related to motor development. in general it is inherited in autosomal recessive principles, however in the western world mostly seen with de novo dominant mutations in the collagen vi genes. milder form of the condition is the bethlem myopathy. there may be overlap ...

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