Article

Estimating the prevalence of <i>LAMA2</i> congenital muscular dystrophy using population genetic databases

2022-07-10

Abstract excerpt

<h4>BACKGROUND</h4> Recessive pathogenic variants in LAMA2 resulting in complete or partial loss of laminin α2 protein cause congenital muscular dystrophy ( LAMA2 CMD). The prevalence of LAMA2 CMD has been estimated by epidemiological studies to lie between 1.36 - 20 cases per million. However, prevalence estimates from epidemiological studies are vulnerable to inaccuracies owing to challenges with studying ra...

Topics

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

Identifiers and source

Literature Corpus work: 9db70b65-73f6-521a-bcc5-0dbfcf36a5db
DOI: 10.1101/2022.07.06.499037

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Estimating the prevalence of <i>LAMA2</i> congenital muscular dystrophy using population genetic databasesDOI 10.1101/2022.07.06.499037Read

Estimating the Prevalence of LAMA2 Congenital Muscular Dystrophy using Population Genetic Databases.Semantic proximity Read

Congenital muscular dystrophies in ChinaSemantic proximity Read

Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databasesSemantic proximity Read

Prevalence of congenital muscular dystrophy in Italy: a population study.Semantic proximity Read

LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes.Semantic proximity Read

Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period.Semantic proximity Read

Benchmarking autosomal recessive disease prevalence estimation from allele frequencies against newborn screening dataSemantic proximity Read

A Novel LAMA2 Mutation (c.7412G>A) Was Found in a Chinese Patient With Congenital Muscular Dystrophy.Semantic proximity Read

Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients’ cohort from Qatar. A population specific founder variantSemantic proximity Read

Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohortSemantic proximity Read

Merosin-deficient congenital muscular dystrophy: A novel homozygous mutation in the laminin-2 gene.Semantic proximity Read

LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies.Semantic proximity Read