Results 51 to 60 of about 690 (122)

Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2

BMC Research Notes, 2011
Background Congenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene that encodes the laminin α2 chain, a component of the skeletal muscle extracellular matrix protein laminin-211.
Di Blasi Claudia, Bellafiore Emanuela, Salih Mustafa AM, Manzini M Chiara, Moore Steven A, Seidahmed Mohammed Z, Mukhtar Maowia M, Karrar Zein A, Walsh Christopher A, Campbell Kevin P, Mantegazza Renato, Morandi Lucia, Mora Marina   +12 more
doaj   +1 more source

A Novel Splice Site Variant in COL6A1 Causes Ullrich Congenital Muscular Dystrophy in a Consanguineous Malian Family

Molecular Genetics &Genomic Medicine, Volume 12, Issue 11, November 2024.
A novel homozygous splice site variant in COL6A1 causing Ullrich congenital muscular dystrophy in a Malian family, emphasizing the importance of genetic studies in African cohorts to advance epidemiological knowledge and therapeutic development. ABSTRACT Background Congenital muscular dystrophies (CMDs) are diverse early‐onset conditions affecting ...
Alassane Baneye Maiga, Ibrahim Pamanta, Salia Bamba, Lassana Cissé, Salimata Diarra, Sidi Touré, Abdoulaye Yalcouyé, Seydou Diallo, Salimata Diallo, Fousseyni Kané, Seybou Hassane Diallo, Hamidou Oumar Ba, Cheick Oumar Guinto, Kenneth Fischbeck, Guida Landoure, Idrissa Ahmadou Cissé, The H3Africa Consortium   +16 more
wiley   +1 more source

Nuclear bodies reorganize during myogenesis in vitro and are differentially disrupted by expression of FSHD-associated DUX4

Skeletal Muscle, 2016
Background Nuclear bodies, such as nucleoli, PML bodies, and SC35 speckles, are dynamic sub-nuclear structures that regulate multiple genetic and epigenetic processes. Additional regulation is provided by RNA/DNA handling proteins, notably TDP-43 and FUS,
Sachiko Homma, Mary Lou Beermann, Bryant Yu, Frederick M. Boyce, Jeffrey Boone Miller   +4 more
doaj   +1 more source

A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish.

PLoS ONE, 2012
Congenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of inherited muscle disorders. In patients, muscle weakness is usually present at or shortly after birth and is progressive in nature.
Vandana A Gupta, Genri Kawahara, Jennifer A Myers, Aye T Chen, Thomas E Hall, M Chiara Manzini, Peter D Currie, Yi Zhou, Leonard I Zon, Louis M Kunkel, Alan H Beggs   +10 more
doaj   +1 more source

Proteoglycans are Differentially Altered in Muscular Dystrophies

, 2006
The Scientific World Journal, Volume 6, Issue 1, Page 446-448, 2006.
Simona Zanotti, Marina Mora, Martin Goette   +2 more
wiley   +1 more source

Linker Protein Repair of LAMA2 Dystrophic Neuromuscular Basement Membranes

Frontiers in Molecular Neuroscience, 2019
An understanding of basement membrane (BM) assembly at a molecular level provides a foundation with which to develop repair strategies for diseases with defects of BM structure.
Peter D. Yurchenco, Karen K. McKee
doaj   +1 more source

Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives Distrofia muscular congênita. Parte II: revisão da patogênese e perspectivas terapêuticas

Arquivos de Neuro-Psiquiatria, 2009
The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with preferentially autosomal recessive inheritance, that are characterized by congenital hypotonia, delayed motor development and ...
Umbertina Conti Reed
doaj   +1 more source

Vemurafenib improves muscle histopathology in a mouse model of LAMA2-related congenital muscular dystrophy

Disease Models & Mechanisms, 2023
Ariany Oliveira-Santos, Marisela Dagda, Jennifer Wittmann, Robert Smalley, Dean J. Burkin   +4 more
doaj   +1 more source

Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects Distrofia muscular congênita. Parte I: revisão dos aspectos fenotípicos e diagnósticos

Arquivos de Neuro-Psiquiatria, 2009
The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with preferentially autosomal recessive inheritance, that are characterized by congenital hypotonia, delayed motor development and ...
Umbertina Conti Reed
doaj   +1 more source

Artificial restoration of the linkage between laminin and dystroglycan ameliorates the disease progression of MDC1A muscular dystrophy at all stages

, 2005
Laminin-α2 deficient congenital muscular dystrophy, classified as MDC1A, is a severe progressive muscle-wasting disease that leads to death in early childhood. MDC1A is caused by mutations in lama2, the gene encoding the laminin-α2 chain being part of laminin-2, the main laminin isoform present in the extracellular matrix of muscles and peripheral ...
openaire   +2 more sources