Congenital Muscular Dystrophy Type 1A Latest Advances

Find the Latest Research About Congenital Muscular Dystrophy Type 1A

Last Updated: 09/26/2026

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Found 65 publications

Clinico-genetic heterogeneity in Pakistani families affected with muscular dystrophies.

Clinico-genetic heterogeneity in Pakistani families affected with muscular dystrophies.

Journal: Molecular biology reports
Published: October 03, 2025

Muscle transcriptome profiling reveals novel molecular pathways and biomarkers in laminin-α2 deficient patients.

Muscle transcriptome profiling reveals novel molecular pathways and biomarkers in laminin-α2 deficient patients.

Journal: Acta neuropathologica communications
Published: September 26, 2025

Exon-Skipping Using Antisense Oligonucleotides for Laminin-Alpha2-Deficient Muscular Dystrophy.

Exon-Skipping Using Antisense Oligonucleotides for Laminin-Alpha2-Deficient Muscular Dystrophy.

Journal: Methods in molecular biology (Clifton, N.J.)
Published: July 28, 2025

A novel compound heterozygous variant in LAMA2 gene in a family with merosin-deficient congenital muscular dystrophy.

A novel compound heterozygous variant in LAMA2 gene in a family with merosin-deficient congenital muscular dystrophy.

Journal: BMC medical genomics
Published: May 16, 2025

Atypical Presentation of Congenital Muscular Dystrophy: A LAMA2 Related Muscular Dystrophy.

Atypical Presentation of Congenital Muscular Dystrophy: A LAMA2 Related Muscular Dystrophy.

Journal: Journal of child neurology
Published: April 29, 2025

Spatial proteomics reveals recombinant human laminin-111 restores adhesion signaling to laminin-α2-deficient muscle.

Spatial proteomics reveals recombinant human laminin-111 restores adhesion signaling to laminin-α2-deficient muscle.

Journal: JCI insight
Published: April 15, 2025

Child Neurology: Severe GMPPB-Related Congenital Muscular Dystrophy With Rapidly Progressive Encephalopathy Leading to Infantile Death.

Child Neurology: Severe GMPPB-Related Congenital Muscular Dystrophy With Rapidly Progressive Encephalopathy Leading to Infantile Death.

Journal: Neurology
Published: January 15, 2025

Systemic inhibition of bone morphogenetic protein 1.3 as a possible treatment for laminin-related congenital muscular dystrophy.

Systemic inhibition of bone morphogenetic protein 1.3 as a possible treatment for laminin-related congenital muscular dystrophy.

Journal: International orthopaedics
Published: October 11, 2024

An international retrospective early natural history study of LAMA2-related dystrophies.

An international retrospective early natural history study of LAMA2-related dystrophies.

Journal: Journal of neuromuscular diseases
Published: August 23, 2024

Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families.

Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families.

Journal: Neurogenetics
Published: December 07, 2023

Myelin abnormalities in merosin-deficient congenital muscular dystrophy.

Myelin abnormalities in merosin-deficient congenital muscular dystrophy.

Journal: Muscle & nerve
Published: February 25, 2023

Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis.

Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis.

Journal: Genes
Published: January 14, 2023
Showing 1-12 of 65

Last Updated: 09/26/2026