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Last Updated: 03/06/2025
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Found 58 publications
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
Myelin abnormalities in merosin-deficient congenital muscular dystrophy.
Journal: Muscle & nerve
Published: February 25, 2023
Whole exome sequencing identified a novel LAMA2 frameshift variant causing merosin-deficient congenital muscular dystrophy in a patient with cardiomyopathy, and autism-like behavior.
Journal: Neuromuscular disorders : NMD
Published: February 13, 2022
Widening the spectrum of LAMA 2 congenital muscular dystrophy (MDC1A): cobblestone malformation.
Journal: Arquivos de neuro-psiquiatria
Published: July 27, 2021
Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin-deficient congenital muscular dystrophy type 1A.
Journal: Journal of clinical laboratory analysis
Published: May 06, 2021
Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy.
Journal: Human molecular genetics
Published: April 06, 2021
Whole-body muscle MRI characteristics of LAMA2-related congenital muscular dystrophy children: An emerging pattern.
Journal: Neuromuscular disorders : NMD
Published: March 23, 2021
Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report.
Journal: BMC medical genomics
Published: February 06, 2021
A cryptic intronic LAMA2 insertion in a boy with mild congenital muscular dystrophy type 1A.
Journal: Neuromuscular disorders : NMD
Published: November 26, 2020
Last Updated: 03/06/2025