Results 1 to 10 of about 132 (113)
Merosin and laminin in myogenesis; specific requirement for merosin in myotube stability and survival. [PDF]
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 ...
Engvall E
exaly +3 more sources
Merosin-positive congenital muscular dystrophy: neuroimaging findings Distrofia muscular congênita merosina-positiva: achados de neuroimagem [PDF]
Arquivos de Neuro-Psiquiatria, 2007 Congenital muscle dystrophy (CMD) is a heterogeneous group of autosomal recessive myopathies. It is known that CMD may affect the central nervous system (CNS).
André Palma da Cunha Matta +1 more
doaj +5 more sources
Dystroglycan is a binding protein of laminin and merosin in peripheral nerve
FEBS Letters, 1994 α‐Dystroglycan, a 156 kDa dystrophin‐associated glycoprotein, binds laminin in skeletal muscle. Here we demonstrate that α‐dystroglycan is a binding protein of laminin (A/B1/B2) and merosin (M/B1/B2) in peripheral nerve. Immunocytochemical analysis demonstrates the localization of α‐dystroglycan and merosin surrounding myelin sheath of peripheral nerve
Kevin P Campbell
exaly +3 more sources
Brazilian Journal of Anesthesiology, 2023 Merosin-deficient muscular dystrophy is caused by an autosomal recessive mutation on laminin-..2 gene characterized by severe progressive muscle weakness associated with neuromuscular scoliosis and restrictive lung disease.
Jorge Pelicano Paulos +3 more
doaj +1 more source
Congenital muscular dystrophy type 1A with residual merosin expression [PDF]
Korean Journal of Pediatrics, 2014 Congenital muscular dystrophy type 1A (MDC1A) is an autosomal recessive disorder characterized by hypotonia, elevated serum creatine kinase level, delayed motor milestones, white matter changes observed by brain magnetic resonance imaging, and normal ...
Hyo Jeong Kim +6 more
doaj +1 more source
Frontiers in Neurology, 2022 BackgroundBenefits and challenges resulting from advances in genetic diagnostics are two sides of the same coin. Facilitation of a correct and timely diagnosis is paralleled by challenges in interpretation of variants of unknown significance (VUS ...
Stefanie Meyer +10 more
doaj +1 more source
Rigid spine syndrome: case report [PDF]
Arquivos de Neuro-Psiquiatria, 1998 We describe a patient who had difficulty in walking since toddling stage and presented proximal upper and lower member weakness which have evolved to a progressive limitation of neck and trunk flexure, compatible with rigid spine syndrome.
VIVIANE H. FLUMIGNAN ZÉTOLA +5 more
doaj +1 more source
Frontiers in Neurology, 2023 The laminin α2 (LAMA2) gene pathogenic variants can lead to limb–girdle muscular dystrophy (known as LGMDR23), which is rarely reported and characterized by proximal weakness in the limbs.
Duo-Zi Wang +8 more
doaj +1 more source
Autophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A
European Journal of Translational Myology, 2023 The autophagy process recycles dysfunctional cellular components and protein aggregates by sequestering them in autophagosomes directed to lysosomes for enzymatic degradation.
Mariangela Mastrapasqua +13 more
doaj +1 more source
Arquivos de Neuro-Psiquiatria, 1997 Uma proporção variável de pacientes com distrofia muscular congênita (DMC) da forma clássica ou ocidental apresenta deficiência da cadeia α2 da merosina, uma proteína da matriz extracelular.
Lineu Cesar Werneck +2 more
doaj +1 more source