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

Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy

10 May 2023

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Genetic Neurodegenerative Diseases
Share to Lipoproteins and Cardiovascular Health
Share to Muscle Physiology and Disorders

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 37167966
DOI: 10.1016/j.ajhg.2023.04.006

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophyPMID 37167966Read ↗

Anti-HMGCR MyopathySemantic proximity Read ↗

Effects of HMGCR deficiency on skeletal muscle developmentSemantic proximity Read ↗

Biallelic variants in<i>HMGCS1</i>are a novel cause of rare rigid spine syndromeSemantic proximity Read ↗

Heterozygous HMGB1 variants and neurodevelopmental disorder: phenotypic and allelic spectrumSemantic proximity Read ↗

HMGA2 Variants in Silver-Russell Syndrome: Homozygous and Heterozygous Occurrence.Semantic proximity Read ↗

Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome.Semantic proximity Read ↗

Absence of Pathogenic Mutations and Strong Association With HLA-DRB1*11:01 in Statin-Naïve Early-Onset Anti-HMGCR Necrotizing Myopathy.Semantic proximity Read ↗

Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severitySemantic proximity Read ↗

Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone.Semantic proximity Read ↗

HMGB1 in kidney diseasesSemantic proximity Read ↗

Biallelic mutations in NRROS cause an early onset lethal microgliopathy.Semantic proximity Read ↗

HMG chromosomal proteins in development and disease.Semantic proximity Read ↗

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