Genetic profile of Brazilian patients with LAMA2-related dystrophies.

doi:10.1111/cge.14538

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Article

Genetic profile of Brazilian patients with LAMA2-related dystrophies.

Clinical genetics - 1 Sept 2024

Camelo Clara Gontijo, Moreno Cristiane de Araujo Martins, Artilheiro Mariana da Cunha, Fonseca Alulin Tácio Quadros Monteiro, Gurgel Gianetti Juliana, Barbosa André Vinícius, Donis Karina Carvalho, Saute Jonas Alex Morales, Pessoa André, Van der Linden Hélio, Gonçalves Ana Rita Alcântara, Kulikowski Leslie Domenici, Kok Fernando, Zanoteli Edmar

Abstract excerpt

LAMA2-related dystrophies (LAMA2-RD) constitute a rare neuromuscular disorder with a broad spectrum of phenotypic severity. Our understanding of the genotype-phenotype correlations in this condition remains incomplete, and reliable clinical data for clinical trial readiness is limited. In this retrospective study, we reviewed the genetic data and medical records of 114 LAMA2-RD patients enrolled at seven research...

Topics

Humans
Laminin
Male
Brazil
Female
Genetic Association Studies
Child
Child, Preschool
Adolescent
Adult

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Profile

Phenotype

Retrospective Studies

Muscular Dystrophies

Mutation

Young Adult

Genetic Predisposition to Disease

Infant

Source

Open in PubMed

Identifiers

PMID: 38747280
DOI: 10.1111/cge.14538

Genes

LAMA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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