Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features-Reference-Cited by-同舟云学术

Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features

Published:2017-06-21 Issue:9 Volume:25 Page:1040-1048
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Storbeck Markus,Horsberg Eriksen Beate,Unger Andreas,Hölker Irmgard,Aukrust Ingvild,Martínez-Carrera Lilian A,Linke Wolfgang A,Ferbert Andreas,Heller Raoul,Vorgerd Matthias,Houge Gunnar,Wirth Brunhilde

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201798.pdf

Reference28 articles.

1. Neveling K, Martinez-Carrera LA, Holker I et al: Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy. Am J Hum Genet 2013; 96: 946–954.

2. Peeters K, Litvinenko I, Asselbergh B et al: Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance. Am J Hum Genet 2013; 92: 955–964.

3. Oates EC, Rossor AM, Hafezparast M et al: Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. Am J Hum Genet 2013; 92: 965–973.

4. Rossor AM, Oates EC, Salter HK et al: Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. Brain 2015; 138: 293–310.

5. Synofzik M, Martinez-Carrera LA, Lindig T, Schols L, Wirth B : Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype. J Neurol Neurosurg Psychiatry 2014; 85: 590–592.

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