parcopa vs sinemet side wellbutrin with free viagra imigran gelap di indonesia medtronic baclofen pump spasticity buy nolvadex neurontin 300mg side effects medication allergy md discontinued amsa fast orlistat side effects polarmeds pharmacyclics import stemetil australia bentyl 10mg medication metformin dosage for pcos nolvadex for sale best online viagra pharmacy store clonidine 0 2 to buy no prescription tryptizol tablets 10mg quality rx supplier taking diflucan and breastfeeding atarax medicine classification sildenafil 100 mg 40 viagra pills for 100 dollars generic finasteride 1 mg clomid women purchase levothyroxine no prescription amphetamine salt combo coming off of seroquel xr side effects cialis 4o mg cabaser 1mg to ml low dose cialis zovirax acyclovir medication buy online viprogra professional regulation direct pharmacy usa cost of celebrex without insurance medoflucon 150mg viagra donde comprar venaglaxine buy nizagara pramipexole dihydrochloride 0.5 herbal viagra does it work atosil tabletten duo decadron para que sirve tadalafil tabs levaquin lawsuit clomid 50mg buy online aricept generic pilocarpine eye drops brand name baristanet bloomfield nj schools lanoxin without prescription rizatriptan benzoate maxalt mlt 10 mountain west apothecary viagra estrace wirkstoff dalacin t topical solution pfizer aldara treatment for warts phexin 750 gold super viagra candian onlaintv ntvspor diclofenac over the counter diclofenac tablets liquidex rui products reviews content validity assessment bausch & lomb lotemax coupon euthyrox side effects viagra toronto canada preisvergleich cialis generika 20mg viagra montreal how much is viagra without insurance buy doxycycline hyclate online evista generic medication buy qnexa online no prescription nosipren lowest price hotels arcoxia 120mg tablets generic cialis buy online uk buy albenza oral caprice blond prazosin for nightmares generika drugstore branches cefadroxil antibiotics buy online tadalafil pharmacy russia cialis tadalafil 20mg tablets stendra online salzarex manufacturer coupons cb1 reviews promethazine dm cough syrup risperdal lawsuit gynecomastia tapiales construccion de techos lopid medication side effects reichlox 500mg hydrocodone jelly thailand ou trouver xenical pas cher vilches ateneo buy zopiclone usa thalidomide birth defects united states omnicef for uti in pregnancy generic lipitor walmart buy celexa with no prescription cialis 5mg buy online how to make homemade codeine syrup vrdrug scam alert vimax detox and raspberry ketones lopid side effects gemfibrozil 600 cheap viagra ireland saroten 25mg fentanyl pain meds online from canada buying viagra in ontario levitra 20 mg impotence treatment lexapro side effects how long do they last buy cialis express shipping cheap viagra professional online prevacid availability buy cheap cialis online citalopram hydrobromide uses wellbutrin 150 sr canada no rx cialis for daily use coupons himalaya geriforte benefits australia drug store chigualos cortos orchard 56 pilex max synthroid shelf life buy stieva a cream buy viagraa online canada hoodia reviews uk canadian pharmacy alesse wyeth tantalum long beach restaurant avedox fc barcelona atenolol drug order furosemide 40 mg diuretic generic viagra online north america promethazine 25mg tablets noroxin shampoo bar cefadroxil 500 mg for bronchitis low cost sctos pharmacy tech certification study guide viagra delivered at home cialis super force online shopping ambien withdrawal symptoms side effects low cost pharmacy canada kelnor without prescription by safety and chep aricept zinoxime vial necklace will marijuana affect cialis dyazide side effects triamterene hydrochlorothiazide pursues viagra with a gift card buy tadalis sx cheap cialis generic online germany order finasteride online avelox generic date malegra fxt apotex atorvastatin recall norvasc medication patient assistance pharmacy viagra super power euroclinix opinie nomi ceftin and alcohol consumption ampicillin with out a dr duloxetine hcl dr 30 mg cap order xenical online from canada sureway transportation st cloud mn buspar 10 mg information 367 suhagra terbinafine side effects celebrex uk buy orlistat nyc betnovate scalp application 0.1 samonas prime moving & storage prescription for cymbalta needed kemadrin procyclidine purchase windows strattera medication and weight lossstromectalstromectol tamsulosin hcl 0.4mg side effects flovent hfa inhaler coupons buy generic levitra vipps pharmacies viagra low cost furosemide decadron injection dexamethasone can you get high from ceftin synthroid side effects forum salzarex tramadol cheap clomid usa pharmacy fluconazole 150mg capsule cheapest viagra price terramycin for dogs eye real cialis albuterol from mexico reputable online pharmacists tamsulosin 0.4mg capsules for men voltaren side effects depression folcres 5mg lexapro prednisolone acetate ophthalmic suspension usp price of viagra in india femara to buy without prescription search rhine pharmacy generic cialis online usa master card indomethacin side effects in dogs how much is cialis 20mg portuguese terrorists viagra sales canadian online pharmacy chains aldara medication costalesse baclofen 10mg tablets dose lexapro online no rx cialis china made indapamide 2.5mg tablets what is it for elavil information medication side effects acyclovir 800mg dosage levitra online ordering can i use ip 272 for clymedia astromenda search removal voltaren retard 100 mg for sale amiloride hydrochlorothiazide brand name but cheap frusomide nolvadex lowest priceonline vendita cialis professional relafen 500 mg medication flomax 0 4mg price ciplafield eas req status quo synthroid 125mcg online pharmacy norvasc for sale lopressor generic side effects code red pill 7 second pfizer viagra buy online in india use of reglan for migrainesreichlox milnacipran generic xanax cost of viagra per pill analgin wikipedia buying pfizer viagra online topamax recall topamax side effects robaxin for dogs drugs pyridium over the counter free ventolin inhaler coupons viagra pills from mexico plavix coupons astra zeneca ropinirole hcl side effects quien receta la viagra actos lawsuit generic cialis safe buy flagyl use paypal cymbalta antidepressant arcoxia 90mg pain killer augmentin side effects treatment online pharmacy without perscriptions buy amoxicillin 500mg no prescription zopiclone 7.5mg tablets canadian discount rx services prozac and alcohol side effects depomedrol side effects alesse generics generic lipitor over the counter grathazon obat apa sering brand viagra buy online order cheap tinadozle stanozolol cycle ranitidine side effects rash yasminelle uk suprax 400mg for sale sublingual nitroglycerin protocol verapamil er side effects best online pharmacy wit aviane birth control pill side effects epharmacy online thesaurus buy priligy uk prostata inflamada sangrando viagra predaj lumigan side effects dizziness costo cialis 5 mg combivent nebulizer bonadoxina dosis pediatrica farmacia online italia viagra generico ventolin side effects for baby frumil tabs for crazy xenical orlistat no prescription tinazol cream puff diazepam dosage for anxiety viagra in dubai pharmacy orderpharma uk yahoo albuterol nebulizer treatment medication prendo il viagra ogni giorno lynoral ethinyl estradiol tablets aleve ingredients side effects cialis without insurance keppra 500mg terramycin ointment for rabbits propecia cheap canada online lasixs water pill generic parlodel drug google canadian non prescription viagra maxolon safety in pregnancy perlutex veterinary where does ginseng grow in pennsylvania claravis side effects hair loss mexico buy no precrition vigar vicodin pictures and information benazepril hcl 20mg side effects turkish viagra terramycin antibiotic ophthalmic ointment in utah levitra 20 mg doctor st alfuzosin hydrochloride bph puerto rico board of pharmacy medrol 4mg from mexico fluconazole 150mg treatment for oral thrush vidalista 20 reviews buy lasix 500 mg online levobiotic 500mg amoxicillin clindamycin 150mg antibiotic how to buy xanax no script navidoxine drug abuse cataflam 50 mg diclofenac potassium prednisone tablets comprar pfizer en estados unidos manufacturer of esomeprazole magnesium trihydrate adipex side effects medication benazepril hcl 20mg losartan 50 mg price actos pioglitazone hcl 30mg provigil coupons 2012 metronidazole dogs cialis professional vs super active amoxicillin canadian pharmacy omeprazole dr 20 mg capsule side effects zetia generic release date amoxicillin for cats online morphine side effects dose voveran injection zopiclone drug schedule hyzaar 50 12.5 side effects silagra 100 lortab 7.5 mg generic epharmacy online auctions generic drugs online from india moduretic dosage for benadryl vytorin 10/40 cost at walgreens yasmin deliz hot orderpharma uk athletics trazodone for insomnia and anxiety pravastatin sodium 40 mg tablets canada medicine synthroid levaquin antibiotic lawsuits canadian drugs generic viagra chloroquine dosage children betneval creme fraiche douleurs regles sous duphaston vardenafil india generic viagra sales eulexin medication side viagra online legitimate resources what is maxolon tablets used for tryptizol tab how do you remove vosteran search engine priligy generika dapoxetine kaufen clopidogrel side effects in dogs synthroid and weight loss levothyroxine levoxyl recall viagra horror stories phenergan buy online no prescription erexin capsules yohimbe bark sample test for pharmacy tech aleve d and xanax buy viagra out of us when to start taking clomid lipitor and diabetes lawsuit exelon corporate headquarters amlodipine besylate 5mg 10mg robaxin dosage information prescription solutions log in chloroquine resistant malaria areas sildenafilo casero como hacer buy propranolol inderal uk cockapoo information deutschcoituscolcrys acyclovir for shingles while pregnant sky pharmacy online drugstore review disgrasil orlistat precious lord best price viagra from uk rx purple pharmacy mexico price list clozaril side effects drooling baclofen 10mg tablets indications & dosage levobiotic 500mg equals diflucan otc walgreens viagra ad on radio viagra rezeptfrei paypal bezahlen lamisil pills for yeast infection regenon 25mg clomid 25mg generic viagra buy diclofenac tablets online american cialis gynopharm estrotab 1mg maxifort zimax sildenafil 100 meclizine 12.5mg tablets prednisone for dogs side effects eyes morphine sulfate er 30mg viagra online for men dalacin c antibiotic augmentin antibiotic for sinus infection permethrin insecticide toxicity zetia medication for bladder infection cialis sublingual vitamin b12 deficiency symptoms treatmentvitamix online uk amoxicillin online cialis india escitalopram 10mg picture nexium for 18 00 a month drugstore nutrition pharmacy eu minoxidil topical solution 2 levaquin or avelox for sinus infection lipitor 40 mg apcalis online overnight cialis online zyprexa withdrawal symptoms headache zyrtec side effects in adults canadian online viagra reveiws flomax 0 4mg cholesterol guidelines calculator ivermectin for dogs safest no prescription online pharmacy tantalum oxide dielectric constant kirkland minoxidil 5 for women levofloxacin 500 mg and alcohol buy cymbalta without prescription buy amitriptyline 50 mg with paypal metoprolol succinate er 25mg side effects cialis daily 5 mg price serp 5158 1 what is avelox 400mg side effects atenolol for anxiety disorder tapiales construccion de albercas redustat diet pills tablets peritol dermatitis of the scalp condyline bez recepty what milligrams does viagra come in levitra pills remeron for sleeping jasmine sanders wikipedia all body generic viagra cheap acyclovir online allegra d 12 hour coupons costco travel packages casodex prostate cancer drug minocin antibiotic side effects best generic cialis pharmacy reviews where can i buy motrin 800 prednisone and alcohol interactions does temp affect viagra arthritis medication for cats sildenafil citrate tablets 100 mg anafranil for sale cheep clonidine citrato de cildenafil unisom for morning sickness dosage erection pictures how to buy synthroid from mexico buy propecia 1mg quinine sulfate for leg cramps side effects eldepryl medication side keppra side effects medication vitamin b12 deficiency symptoms and causes supreme suppliers viagra eurax cream 10 alfuzosin hcl er 10 mg reviews cefixime 100mg 5ml angine dafalgan codeine levitra overnight piroxicam side effects dogs ciprofloxacin hcl nuvigil reviews for shift work disorder hong kong buy thailand viagra haldol dosage for cats combitic global viagra xenical orlistat liposafe side effects la vpz de maroa padre help generic viagra forums sample pack of cialis online diovan side effects valsartan levitra sample pack can you buy kamagra in australia adipex side effects blog diane sawyer plastic surgery sublingual b12 vitamin prezzo levitra in farmacia anxiety attacks while sleeping buy real finpecia tablets usp 1mg dafalgan sciroppo bambini 30 mg flonase vs nasonex for kids topiramate 100mg side effects milnacipran fibromyalgia syndrome garlic butter recipes for bread dermizol gelato prednisone withdrawal side effects baclofen pump implantation deltasone classification cyclidox tablets under $100 metformin hydrochloride tablets pinamox pinewood apartments lortab 7.5 mg side effects kamagrashop nlpketorolac fda approved pharmacies best over the counter ed treatment 750 augmentin online buy amoxicillin amazon 252 etodolac side effects weight gain pergotime in english translation testosterone patches online buy prednisone without script lasaoren removal guide acyclovir for cold sores reviews
Skip to content
Powikszanie czcionki Domylny rozmiar czcionki Pomiejszanie czcionki

Menu główne

Genetyka

Różne

Rdzeniowy Zanik Mięśni Utwórz PDF Drukuj Wyślij znajomemu


http://www.termedia.pl/

     Neurologia i Neurochirurgia Polska  5/2006

  
    
     Opis przypadku
Pseudodominujące dziedziczenie rdzeniowego zaniku mięśni - ojciec i syn chorzy na SMA
    
Neurol Neurochirur Pol 2006; 40, 5: 446-449
     autorzy: Maria Jędrzejowska, Agnieszka Madej-Pilarczyk, Janusz Zimowski, Irena Hausmanowa-Petrusewicz,
    
Rdzeniowy zanik mięśni (SMA) jest chorobą genetycznie uwarunkowaną, dziedziczoną jako cecha autosomalna recesywna, związaną z mutacjami genu SMN1. Ze względu na typ dziedziczenia ryzyko powtórzenia się choroby w kolejnych pokoleniach jest małe i wynosi ok. 1%. W pracy przedstawiamy ojca i syna chorych na rdzeniowy zanik mięśni. Ojciec choruje od ok. 13. roku życia na łagodną postać SMA, u syna stwierdzono SMA2, z pierwszymi objawami ok. 13. mies. życia. Badania genetyczne u obu badanych wykazały obualleliczną delecję eksonu 7 i 8 w genie SMN1. Matka chłopca jest nosicielką delecji w locus SMA. Badania ilościowe wykazały u niej obecność jednej kopii genu SMN1.

Spinal muscular atrophy (SMA) is an autosomal recessive hereditary disorder caused by mutations of the SMN1 gene. Because of the autosomal recessive type of transmission, the genetic risk of the disease in the following generations is small and is estimated to be about 1%. Here we present a case report of a father and son suffering from SMA. The father is affected with a mild form of SMA, with onset at about 13 years of age. The son suffers from SMA type 2, with onset at about 13 months of age. In both father and son, genetic analysis showed biallelic deletion of exons 7 and 8 in the SMN1 gene. The boy's mother is a carrier of the deletion at the SMA locus. Quantitative analysis revealed one copy of the SMN1 gene.




 

Ochrona Prawna

piecz_prewencyjna_koksztys.jpg