Article
Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.
Neurology - 17 Feb 2015
Scoto Mariacristina, Rossor Alexander M, Harms Matthew B, Cirak Sebahattin, Calissano Mattia, Robb Stephanie, Manzur Adnan Y, Martínez Arroyo Amaia, Rodriguez Sanz Aida, Mansour Sahar, Fallon Penny, Hadjikoumi Irene, Klein Andrea, Yang Michele, De Visser Marianne, Overweg-Plandsoen W C G Truus, Baas Frank, Taylor J Paul, Benatar Michael, Connolly Anne M, Al-Lozi Muhammad T, Nixon John, de Goede Christian G E L, Foley A Reghan, Mcwilliam Catherine, Pitt Matthew, Sewry Caroline, Phadke Rahul, Hafezparast Majid, Chong W K Kling, Mercuri Eugenio, Baloh Robert H, Reilly Mary M, Muntoni Francesco
Abstract excerpt
OBJECTIVE: To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene. METHODS: Patients with a phenotype suggestive of a motor, non-length-dependent neuronopathy predominantly affecting the lower limbs were identified at participating neuromuscular centers and...
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