(PDF) A Pathogenic Missense Variant (C.1617G>A,

A Pathogenic Missense Variant (C.1617G>A, p.Met539Ile) in UBA1 Causing Infantile X-Linked Spinal Muscular Atrophy (SMAX2)

Frontiers in Pediatrics - Switzerland

doi 10.3389/fped.2020.00064

Full Text

Abstract

Available in full text

Categories

Date

February 28, 2020

Authors

Publisher

Frontiers Media SA

Related search

P496 X- Linked Infantile Spinal Muscular Atrophy (Smax2) Caused by Novel C.1681g>a Substitution in the Uba1 Gene, Expanding the Phenotype

English

Rare Missense and Synonymous Variants in UBE1 Are Associated With X-Linked Infantile Spinal Muscular Atrophy

American Journal of Human Genetics

English

Erratum: Corrigendum: Reduced Transcriptional Regulatory Competence of the Androgen Receptor in X–linked Spinal and Bulbar Muscular Atrophy

Nature Genetics

English

Two Brothers With Very Late Onset of Muscle Weakness in X-Linked Recessive Spinal and Bulbar Muscular Atrophy

Clinical Neurology

English

Autonomic Dysfunction in Spinal Muscular Atrophy

Turkiye Klinikleri Pediatri

English

Spinal Muscular Atrophy Type 1

Pediatric Critical Care Medicine

Intensive Care Medicine

English

SAM68 Is a Physiological Regulator ofSMN2splicing in Spinal Muscular Atrophy

Journal of Cell Biology

English

Carrier Screening for Spinal Muscular Atrophy

Genetics in Medicine

English

SMN Blood Levels in a Porcine Model of Spinal Muscular Atrophy

Journal of Neuromuscular Diseases

English