Combined Genome Sequencing and RNA Analysis Reveals and Characterizes a Deep Intronic Variant in IGHMBP2 in a Patient With Spinal Muscular Atrophy With Respiratory Distress Type 1-Reference-Cited by-同舟云学术

Combined Genome Sequencing and RNA Analysis Reveals and Characterizes a Deep Intronic Variant in IGHMBP2 in a Patient With Spinal Muscular Atrophy With Respiratory Distress Type 1

Published:2021-01 Issue: Volume:114 Page:16-20
ISSN:0887-8994
Container-title:Pediatric Neurology
language:en
Short-container-title:Pediatric Neurology

Author:

Bodle Ethan E.^ORCID,Zhu Wenmiao,Velez-Bartolomei Frances,Tesi-Rocha Ana,Liu Pengfei,Bernstein Jonathan A.^ORCID

Funder

NHGRI

Publisher

Elsevier BV

Subject

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

Reference16 articles.

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2. Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1);Grohmann;Ann Neurol,2003

3. The wide spectrum of clinical phenotypes of spinal muscular atrophy with respiratory distress type 1: a systematic review;Porro;J Neurol Sci,2014

4. IGHMBP2 mutation associated with organ-specific autonomic dysfunction;Tomaselli;Neuromuscul Disord,2018

5. Overturning the paradigm of spinal muscular atrophy as just a motor neuron disease;Yeo;Pediatr Neurol,2020

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