Atypical Phenotype in Two Patients with LAMA2 Mutations [PDF]
, 2014 Congenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the a2-chain of laminin. We report two patients with partial laminin-a2 deficiency and atypical phenotypes, one with almost exclusive central nervous system ...
Bronze-da-Rocha, E +10 more
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LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness
Frontiers in Molecular Neuroscience, 2020 Mutations in the LAMA2 gene affect the production of the α2 subunit of laminin-211 (= merosin) and result in either partial or complete laminin-211 deficiency.
Anna Sarkozy +5 more
doaj +1 more source
Artificial restoration of the linkage between laminin and dystroglycan ameliorates the disease progression of MDC1A muscular dystrophy at all stages [PDF]
, 2005 Laminin-α2 deficient congenital muscular dystrophy, classified as MDC1A, is a severe progressive muscle-wasting disease that leads to death in early childhood.
Meinen, Sarina
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Gpr126/Adgrg6 has Schwann cell autonomous and nonautonomous functions in peripheral nerve injury and repair [PDF]
, 2016 Schwann cells (SCs) are essential for proper peripheral nerve development and repair, although the mechanisms regulating these processes are incompletely understood.
Carlin, Dan +8 more
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Merosin and laminin in myogenesis; specific requirement for merosin in myotube stability and survival. [PDF]
The Journal of cell biology, 1996 Laminin (laminin-1; alpha 1-beta 1-gamma 1) is known to promote myoblast proliferation, fusion, and myotube formation. Merosin (laminin-2 and -4; alpha 2-beta 1/beta 2-gamma 1) is the predominant laminin variant in skeletal muscle basement membranes; genetic defects affecting its structure or expression are the causes of some types of congenital ...
Vachon, P H +4 more
openaire +2 more sources
Asian Journal of Medical Sciences, 2017 Background: Duchenne muscular dystrophy (DMD), one of the most common X linked muscular disorder, affecting 1 in 3500 male births and is caused by mutation in dystrophin gene. 65% of DMD cases are caused by large deletion of dystrophin gene, followed by
Rachna Agarwal
doaj +1 more source
Membrane glucocorticoid receptors are localised in the extracellular matrix and signal through the MAPK pathway in mammalian skeletal muscle fibres [PDF]
, 2015 A number of studies have previously proposed the existence of glucocorticoid receptors on the plasma membrane of many cell types including skeletal muscle fibres.
Dietmar Steverding +8 more
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Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan. [PDF]
PLoS ONE, 2017 PURPOSE:Congenital muscular dystrophy (CMD) is a heterogeneous disease entity. The detailed clinical manifestation and causative gene for each subgroup of CMD are quite variable.
Wen-Chen Liang +8 more
doaj +1 more source
Congenital muscular dystrophy with inflammation: Diagnostic considerations
Annals of Indian Academy of Neurology, 2016 Background and Purpose: Muscle biopsy features of congenital muscular dystrophies (CMD) vary from usual dystrophic picture to normal or nonspecific myopathic picture or prominent fibrosis or striking inflammatory infiltrate, which may lead to diagnostic ...
Kaumudi Konkay +4 more
doaj +1 more source
Distrofia muscular congênita. Parte II: revisão da patogênese e perspectivas terapêuticas [PDF]
, 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 ...
REED, Umbertina Conti
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