Long-term follow-up of a patient with autosomal dominant lower extremity-predominant spinal muscular atrophy-2 due to a BICD2 variant-Reference-Cited by-同舟云学术

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Long-term follow-up of a patient with autosomal dominant lower extremity-predominant spinal muscular atrophy-2 due to a BICD2 variant

Published:2022-09 Issue:8 Volume:44 Page:578-582
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Yamamoto Kosuke,Ohashi Kei,Fujimoto Masanori,Ieda Daisuke,Nakamura Yuji,Hattori Ayako,Kaname Tadashi,Ieda Kuniko,Nishino Ichizo,Saitoh Shinji

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference13 articles.

1. An in-frame deletion in BICD2 associated with a non-progressive form of SMALED;Trimouille;Clin Neurol Neurosurg,2018

2. Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy;Harms;Neurology,2012

3. Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy;Neveling;Am J Hum Genet,2013

4. The genotypic and phenotypic spectrum of BICD2 variants in spinal muscular atrophy;Koboldt;Ann Neurol,2020

5. Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features;Storbeck;Eur J Hum Genet,2017

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