Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy
Jan 1, 2015·,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,·
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MD Mariacristina Scoto
A. Rossor
MD Matthew B. Harms
MD PhD Sebahattin Cirak
MD Mattia Calissano
P. Robb
M. Manzur
M. Arroyo
M. Sanz
M. Mansour
Bmbs Penny Fallon
Mrcpch Irene Hadjikoumi Mbbs
Frcpch Andrea Klein Md
MD Michele Yang
M. D. Visser
Overweg-Plandsoen
P. Baas
PhD Michael Benatar
M. Al-Lozi
MR Nixon
M. D. Goede
Frcp Edin Reghan
M. C. Foley
M. Matthew
Matthew Pitt
Neuromuscular Division
PhD FRCPath Caroline Sewry
R. Phadke
MD PhD FRCPath Majid Hafezparast
W. Kling
M. Chong
MD Eugenio Mercuri
PhD Robert H. Baloh
Priya Md
MD Francesco Muntoni
Abstract
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 referred for targeted sequencing of DYNC1H1. Results:We report a cohort of 30 cases of SMA-LED from 16 families, carrying mutations in the tail and motor domains of DYNC1H1, including 10 no…
Type
Publication
Neurology