Article
Bi-allelic mutations in PRUNE lead to neurodegeneration with spinal motor neuron involvement and hyperCKaemia.
The Turkish journal of pediatrics - 1 Jan 2019
Okur Derya, Daimagüler Hülya Sevcan, Danyeli Ayça Ersen, Tekgül Hasan, Wang Haicui, Wunderlich Gilbert, Çırak Sebahattin, Yiş Uluç
Abstract excerpt
Okur D, Daimagüler HS, Ersen Danyeli A, Tekgül H, Wang H, Wunderlich G, Çırak S, Yiş U. Bi-allelic mutations in PRUNE lead to neurodegeneration with spinal motor neuron involvement and hyperCKaemia. Turk J Pediatr 2019; 61: 931-936. We aimed to systematically investigate the neuromuscular involvement of individuals with PRUNE mutations who may have a major spinal motor neuron involvement as part of the...
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