scholarly journals Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy

2018 ◽  
Vol 30 (3) ◽  
pp. 209-215 ◽  
Author(s):  
Rachel Salazar ◽  
Jacqueline Montes ◽  
Sally Dunaway Young ◽  
Michael P. McDermott ◽  
William Martens ◽  
...  
Keyword(s):  
Lower Extremity ◽  
Spinal Muscular Atrophy ◽  
Quantitative Evaluation ◽  
Muscular Atrophy ◽  
Joint Contractures

A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance

Neurogenetics ◽  
2012 ◽  
Vol 13 (4) ◽  
pp. 327-332 ◽  
Author(s):  
Yoshinori Tsurusaki ◽  
Shinji Saitoh ◽  
Kazuhiro Tomizawa ◽  
Akira Sudo ◽  
Naoko Asahina ◽  
...  
Keyword(s):  
Lower Extremity ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy

scholarly journals Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance

2015 ◽  
Vol 52 (2) ◽  
pp. 239-244 ◽  
Author(s):  
Jaya Punetha ◽  
Soledad Monges ◽  
Maria Emilia Franchi ◽  
Eric P. Hoffman ◽  
Sebahattin Cirak ◽  
...  
Keyword(s):  
Lower Extremity ◽  
Spinal Muscular Atrophy ◽  
Exome Sequencing ◽  
Muscular Atrophy

scholarly journals Dominant spinal muscular atrophy with lower extremity predominance: Linkage to 14q32

Neurology ◽  
2010 ◽  
Vol 75 (6) ◽  
pp. 539-546 ◽  
Author(s):  
M. B. Harms ◽  
P. Allred ◽  
R. Gardner ◽  
J. A. Fernandes Filho ◽  
J. Florence ◽  
...  
Keyword(s):  
Lower Extremity ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy

scholarly journals A novel BICD2 mutation of a patient with Spinal Muscular Atrophy Lower Extremity Predominant 2

2021 ◽  
Author(s):  
Munkhtuya Tumurkhuu ◽  
Uranchimeg Batbuyan ◽  
Satoru Yuzawa ◽  
Yanjinlkham Munkhsaikhan ◽  
Ganbayar Batmunkh ◽  
...  
Keyword(s):  
Lower Extremity ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy

Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation inBICD2

2016 ◽  
Vol 23 (4) ◽  
pp. e19-e21 ◽  
Author(s):  
C. Fiorillo ◽  
F. Moro ◽  
G. Brisca ◽  
A. Accogli ◽  
F. Trucco ◽  
...  
Keyword(s):  
Lower Extremity ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Novel Mutation ◽  
Cerebellar Hypoplasia

A missense mutation in DYNC1H1 gene causing spinal muscular atrophy – Lower extremity, dominant

2018 ◽  
Vol 52 (2) ◽  
pp. 293-297 ◽  
Author(s):  
Joyutpal Das ◽  
James B. Lilleker ◽  
Kavaldeep Jabbal ◽  
John Ealing
Keyword(s):  
Lower Extremity ◽  
Spinal Muscular Atrophy ◽  
Missense Mutation ◽  
Muscular Atrophy

scholarly journals A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report

2021 ◽  
Vol 8 ◽  
pp. 2329048X2110274
Author(s):  
Alexa Derksen ◽  
Amytice Mirchi ◽  
Luan T. Tran ◽  
Lei Cao-Lei ◽  
Maryam Oskoui ◽  
...  
Keyword(s):  
Lower Extremity ◽  
Spinal Muscular Atrophy ◽  
Motor Neuron ◽  
Motor Neurons ◽  
De Novo ◽  
Muscular Atrophy ◽  
Monozygotic Twins ◽  
Neuromuscular Disorder ◽  
Predominant Type ◽  
De Novo Variant

Mutations in DYNC1H1 have been shown to cause spinal muscular atrophy lower extremity predominant type 1 (SMALED1), an autosomal dominant genetic neuromuscular disorder characterized by degeneration of spinal cord motor neurons resulting in muscle weakness. Here, we describe monozygotic twins, one with a more severe upper motor neuron phenotype as a result of a suspected perinatal hypoxic-ischemic event and the other presenting a typical lower motor neuron phenotype. Using exome sequencing, we identified the novel de novo variant c.752G>T; p.Arg251Leu in DYNC1H1. We thereby add this variant to the growing list of mutations in DYNC1H1 that cause SMALED1.

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