نتایج جستجو برای: clinical type

تعداد نتایج: 2362523  

Journal: :iranian journal of child neurology 0
m.r. salehi omran pediatric neurologist,babol university of medical sciences a. ghabeli juibary general physician

abstract objective autosomal recessive spinal muscular atrophy (sma) is, after cystic fibrosis, the second most common fatal monogenic disorder and the second most common hereditary neuromuscular disease after duchenne dystrophy. the disease is characterized by degeneration of anterior horn cells leading to progressive paralysis with muscular atrophy. depending on the clinical type (werdnig- ho...

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: :N.N. Priorov Journal of Traumatology and Orthopedics 2018

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