Turkish families with juvenile motor neuron disease broaden the phenotypic spectrum of SPG11
Tarih
2015Yazar
Kocoglu, Cemile
Ozoguz, Aslihan
Kotan, Dilcan
Basak, Ayse Nazli
Parman, Yesim G.
Eraksoy, Mefkure
Iskender, Ceren
Kartal, Ece
Akcimen, Fulya
Üst veri
Tüm öğe kaydını gösterÖzet
Objective: Identification of causative mutations in 3 consanguineous families (with 4 affected members) referred to our center with young-onset motor neuron disease and overlapping phenotypes resembling autosomal recessive juvenile amyotrophic lateral sclerosis (ARJALS) and autosomal recessive hereditary spastic paraplegia (ARHSP).
Koleksiyonlar
- Makale [92796]