Back to search

Article

Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report.

2023-02-02

Abstract excerpt

<h4>Background: </h4> Neutral lipid storage disease with myopathy (NLSD-M) is an autosomal recessive disease that manifests itself around the 3rd to 4th decade with chronic myopathy of proximal predominance in the shoulder girdle. Clinical myotonia is uncommon. We will report a rare case associated with pathogenic mutations on PNPLA2 and CLCN1 genes with a mixed phenotype of NLSD-M and a subclinical form of Thomse...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
bb93b38a-bf4c-5535-8d4e-49791d7e355a
DOI
10.21203/rs.3.rs-2485442/v1
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report.DOI 10.21203/rs.3.rs-2485442/v1
Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report.Semantic proximity
Neutral lipid storage disease with myopathy: clinicopathological and genetic features of nine Iranian patients.Semantic proximity
Neutral lipid storage disease with myopathy in China: a large multicentric cohort study.Semantic proximity
Two PNPLA2 heterozygous mutations result in neutral lipid storage disease with myopathy: a case report.Semantic proximity
A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles.Semantic proximity
Patients with neutral lipid storage disease with myopathy (NLSDM) in Southwestern China.Semantic proximity
A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: a case report and literature review.Semantic proximity
Early onset neutral lipid storage disease with myopathy presenting as congenital hypotonia and hepatomegaly.Semantic proximity
Neutral lipid storage disease with myopathy with a novel homozygous PNPLA2 variant.Semantic proximity
The clinical, pathological, and genetic characteristics of lipid storage myopathy in northern China.Semantic proximity
A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy.Semantic proximity
Neutral lipid storage disease with myopathy: Further phenotypic characterization of a rare PNPLA2 variant.Semantic proximity
Select a neighboring publication to make it the new centre.