Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

An atypical phenotype of a patient with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD 1).

European journal of medical genetics - 1 Oct 2018

Wu Shuiyan, Chen Ting, Li Ying, Chen Linqi, Xu Qiuqin, Xiao Fei, Bai Zhenjiang

Abstract excerpt

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive disease characterized by infancy-onset diaphragmatic palsy and symmetrical distal muscular weakness. SMARD1 is caused by loss-of-function mutations in IGHMBP2 gene. In this article, we report a male SMARD1 patient with two compound heterozygous mutations (NM_002180.2: c.688C > G; p.(Gln230Glu)) and (NM_002180.2:...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA-Binding Proteins
Share to Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscular Atrophy, Spinal

Share to Mutation

Share to Phenotype

Share to Protein Stability

Share to Respiratory Distress Syndrome, Newborn

Share to Transcription Factors

Source

Identifiers

PMID: 29653221
DOI: 10.1016/j.ejmg.2018.04.001

Genes

IGHMBP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An atypical phenotype of a patient with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD 1).PMID 29653221Read ↗

Infantile spinal muscular atrophy with respiratory distress type I presenting without respiratory involvement: Novel mutations and review of the literature.Semantic proximity Read ↗

The Clinical Heterogeneity of Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)-A Report of Three Cases, Including Twins.Semantic proximity Read ↗

Spinal Muscular Atrophy with Respiratory Distress<br /> Type 1: A Novel Variant of IGHMBP2 Gene.Semantic proximity Read ↗

Infantile spinal muscular atrophy with respiratory distress type I (SMARD 1): an atypical phenotype and review of the literature.Semantic proximity Read ↗

The wide spectrum of clinical phenotypes of spinal muscular atrophy with respiratory distress type 1: a systematic review.Semantic proximity Read ↗

Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights.Semantic proximity Read ↗

[A rare cause of respiratory failure in infants: distal spinal-muscular atrophy 1 (DSMA1 or SMARD1)].Semantic proximity Read ↗

Allelic heterogeneity of SMARD1 at the IGHMBP2 locus.Semantic proximity Read ↗

Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.Semantic proximity Read ↗

Mutation of gene in spinal muscular atrophy respiratory distress type I.Semantic proximity Read ↗

One novel and one recurrent mutation in IGHMBP2 gene, causing severe spinal muscular atrophy respiratory distress 1 with onset soon after birth.Semantic proximity Read ↗

Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.