Results 61 to 70 of about 1,335 (167)

LMNA‐related muscular dystrophy presenting as an inflammatory myopathy

Annals of the Child Neurology Society, Volume 2, Issue 3, Page 242-247, September 2024.
Abstract Introduction There are overlapping features between inflammatory myopathies and muscular dystrophies, particularly laminopathies. Key features that characterize laminopathies include axial and proximal weakness, contractures, and cardiac abnormalities.
Alexandra Santana Almansa, Stephen M. Chrzanowski, Farrah Rajabi, Megan Day‐Lewis, Pui Y. Lee, Hart G. W. Lidov, Laura L. Lehman, Leslie H. Hayes   +7 more
wiley   +1 more source

Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report

BMC Medical Genomics, 2021
Background Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is a rare autosomal recessive genetic condition caused by deleterious mutations in the LAMA2 gene encoding the laminin-α2 chain.
Youssef El Kadiri, Ilham Ratbi, Fatima Zahra Laarabi, Yamna Kriouile, Abdelaziz Sefiani, Jaber Lyahyai   +5 more
doaj   +1 more source

Partial Merosin Deficiency and Precocious Puberty

Electronic Journal of General Medicine, 2015
The congenital muscular dystrophies (CMD) are autosomal-recessive disorders. Classical congenital muscular dystrophy is grouped as merosin-positive and merosin-negative (MN-CMD). Precocious puberty in girls has been defined by Marshal and Tanner in 1969.
EKLİOGLU, Beray Selver, AKYUREK, Nesibe, YUCA, Sevil Arı, ATABEK, Mehmet Emre   +3 more
openaire   +3 more sources

Anesthetic Care of a Child With Merosin-Deficient Muscular Dystrophy

Journal of Medical Cases, 2020
Merosin-deficient congenital muscular dystrophy (MDCMD) is a progressive autosomal recessive disorder caused by the lack of expression of the α2-chain of laminin-211 glycoprotein. The defect results in skeletal muscle dysfunction with severe muscle weakness, hypotonia, proximal joint contractures, facial dysmorphism, and late or failed ambulation ...
Munlemvo, Dolly M., Kanaparthi, Anuradha, Tobias, Joseph D.   +2 more
openaire   +3 more sources

Bethlem myopathy: A novel homozygous variant of c.385C>T (p.Arg129Cys) in the COL6A2 gene

Clinical Case Reports, Volume 12, Issue 8, August 2024.
Key Clinical Message This case highlights the challenges in diagnosing Bethlem myopathy, the need for a high index of suspicion, and the importance of recognizing the diverse clinical presentations of this rare condition. Enhanced understanding can aid in early diagnosis and tailored management.
Maryam Kachuei, Kiana Orangi, Aynaz Mohammadi, Mohammad Mohammadi, Marzieh Mojbafan   +4 more
wiley   +1 more source

Skeletal muscle: molecular structure, myogenesis, biological functions, and diseases

MedComm, Volume 5, Issue 7, July 2024.
The article systematically and comprehensively reviews the physiological and pathological processes associated with skeletal muscles from five perspectives: molecule basis, myogenesis, biological function, poststimulation response, and myopathy. We primarily focus on nuclei‐related behaviors of skeletal muscle, cell–cell fusion, and nuclei migration in
Lan‐Ting Feng, Zhi‐Nan Chen, Huijie Bian   +2 more
wiley   +1 more source

Modulation of oligodendrocyte differentiation by mechanotransduction

Frontiers in Cellular Neuroscience, 2016
Oligodendrocytes (OLs) are responsible for the myelination of axons in the central nervous system. The differentiation of OLs encompasses several stages, through which cells undergo dramatic biochemical and morphological changes.
Tânia Lourenço, Tânia Lourenço, Mário Grãos, Mário Grãos   +3 more
doaj   +1 more source

The congenital muscular dystrophies

Annals of the Child Neurology Society, Volume 2, Issue 1, Page 27-39, March 2024.
Abstract Background Congenital muscular dystrophies (CMDs) are genetically and clinically heterogeneous inherited conditions. Onset is typically within the first year of life. Most CMDs are autosomal recessive, except for de novo dominant mutations in LMNA‐related muscular dystrophy and some collagen‐6‐associated disorders. Results CMD is characterized
Haluk Topaloğlu, Bita Poorshiri
wiley   +1 more source

Skeletal muscle laminin and MDC1A: pathogenesis and treatment strategies

Skeletal Muscle, 2011
Laminin-211 is a cell-adhesion molecule that is strongly expressed in the basement membrane of skeletal muscle. By binding to the cell surface receptors dystroglycan and integrin α7β1, laminin-211 is believed to protect the muscle fiber from damage under
Gawlik Kinga I, Durbeej Madeleine
doaj   +1 more source

Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy

Molecular Genetics & Genomic Medicine, 2020
Background Congenital muscular dystrophy type 1A (MDC1A), also termed merosin‐deficient congenital muscular dystrophy (CMD), is a severe form of CMD caused by mutations in the laminin α2 gene (LAMA2). Of the more than 300 likely pathogenic variants found
Edmund S. Cauley, Alan Pittman, Swati Mummidivarpu, Ehsan G. Karimiani, Samantha Martinez, Isabella Moroni, Reza Boostani, Daniele Podini, Marina Mora, Yalda Jamshidi, Eric P. Hoffman, M. Chiara Manzini   +11 more
doaj   +1 more source