Results 21 to 30 of about 1,216 (116)

Generation of two isogenic induced pluripotent stem cell lines from a 10-year-old typical nemaline myopathy patient with a heterozygous dominant c.541G>A (p.Asp179Asn) pathogenic variant in the ACTA1 gene

Stem Cell Research, 2021
Nemaline myopathy (NM) is a congenital myopathy typically characterized by skeletal muscle weakness and the presence of nemaline bodies in myofibres. Approximately 25% of NM cases are caused by variants in ACTA1. We generated two induced pluripotent stem
Joshua S. Clayton, Carolin K. Scriba, Norma B. Romero, Edoardo Malfatti, Safaa Saker, Thierry Larmonier, Kristen J. Nowak, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor   +9 more
doaj   +1 more source

Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene

Stem Cell Research, 2022
Nemaline myopathy (NM) is a congenital skeletal muscle disorder that typically results in muscle weakness and the presence of rod-like structures (nemaline bodies) in the sarcoplasma and/or in the nuclei of myofibres.
Isabella S. Suleski, Robert Smith, Christina Vo, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Peter J. Houweling, Kristen J. Nowak, Nigel G. Laing, Rhonda L. Taylor, Joshua S. Clayton   +12 more
doaj   +1 more source

Phenotypes induced by NM causing α-skeletal muscle actin mutants in fibroblasts, Sol 8 myoblasts and myotubes

BMC Research Notes, 2009
Background Nemaline myopathy is a neuromuscular disorder characterized by the presence of nemaline bodies in patient muscles. 20% of the cases are associated with α-skeletal muscle actin mutations. We previously showed that actin mutations can cause four
Vandamme Drieke, Lambert Ellen, Waterschoot Davy, Tondeleir Davina, Vandekerckhove Joël, Machesky Laura M, Constantin Bruno, Rommelaere Heidi, Ampe Christophe   +8 more
doaj   +1 more source

Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene

Stem Cell Research, 2021
Nemaline myopathy (NM) is a congenital myopathy typically characterized by skeletal muscle weakness and the presence of abnormal thread- or rod-like structures (nemaline bodies) in myofibres.
Joshua S. Clayton, Carolin K. Scriba, Norma B. Romero, Edoardo Malfatti, Safaa Saker, Thierry Larmonier, Kristen J. Nowak, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor   +9 more
doaj   +1 more source

KLHL40 mutation associated with severe nemaline myopathy, fetal akinesia, and cleft palate

Journal of Pediatric Neurosciences, 2019
The congenital myopathies are a heterogeneous group of inherited neuromuscular disorders characterized by early-onset muscular weakness, hypotonia, and developmental delay.
Kapil K Avasthi, Sarita Agarwal, Inusha Panigrahi   +2 more
doaj   +1 more source

Profound Hypotonia and Respiratory Failure due to Suspected Nemaline Myopathy in a Preterm Infant

American Journal of Perinatology Reports, 2021
Congenital myopathies, such as nemaline myopathy, may present with hypotonia and respiratory failure in the neonatal period. Respiratory function can be further compromised in affected infants by the development of chylous effusions.
Gloria Akuamoah-Boateng, Raymond C. Stetson, Bethany D. Kaemingk, David A. Bieber, Jane E. Brumbaugh   +4 more
doaj   +1 more source

Loss of Tropomodulin4 in the zebrafish mutant träge causes cytoplasmic rod formation and muscle weakness reminiscent of nemaline myopathy

Disease Models & Mechanisms, 2014
Nemaline myopathy is an inherited muscle disease that is mainly diagnosed by the presence of nemaline rods in muscle biopsies. Of the nine genes associated with the disease, five encode components of striated muscle sarcomeres.
Joachim Berger, Hakan Tarakci, Silke Berger, Mei Li, Thomas E. Hall, Anders Arner, Peter D. Currie   +6 more
doaj   +1 more source

A Nemaline Myopathy Presenting with Perinatal Asphyxia

, 2015
Nemaline myopathy is a rare hereditary neuromuscular disease characterized by variable degree of non-progressive or slowly progressive generalized muscle weakness. Clinical features are mostly related with muscle weakness and hypotonia.
Nisa Eda Çullas İlarslan, Nihan Hilal Hoșağası, Engin Demir, Nurullah Okumuș, Dilek Dilli, Beril Talim, Ayșe Aksoy, Ayșegül Zenciroğlu   +7 more
core   +1 more source

Camptocormia as the presenting symptom in sporadic late onset nemaline myopathy: a case report

BMC Musculoskeletal Disorders, 2019
Background Camptocormia has been reported in a plethora of diseases comprising disorders of the central nervous system, the peripheral nervous system, and the neuromuscular junction as well as hereditary and acquired myopathies.
Matthias Türk, Armin M. Nagel, Frank Roemer, Ursula Schlötzer-Schrehardt, Christian T. Thiel, Martin Winterholler, Rolf Schröder   +6 more
doaj   +1 more source

The clinicopathological characteristics analysis and differential diagnosis of muscle disorder cases with nemaline⁃shaped structure

Chinese Journal of Contemporary Neurology and Neurosurgery
Objective Summarize the pathological and clinical characteristics of muscle disorder cases with nemaline⁃shaped structure, to improve the diagnosis and differential diagnosis of the disease.
ZHENG Dan⁃feng, LI Chun⁃yao, LIU Xiang⁃yi, GUO Wen⁃yang, MENG Qing⁃yang, ZHONG Yan⁃feng, ZHANG Ying⁃shuang   +6 more
doaj   +1 more source