Results 41 to 50 of about 27,107 (181)

X-linked myotubular myopathy: Report of a case with novel mutation

, 2007
Myotubular myopathy is a well-defined entity within the centronuclear myopathy subgroup of congenital myopathies. The authors present a patient with the most severe V linked recessive type (XLMTM).
Katona, M, Bodi, I, Sztriha, L, Hortobagyi, T, Szabo, H, Bereg, E, Kovacs, K S, Biancalana, V, Turi, S   +8 more
core   +1 more source

Congenital Myopathy in Lowe Syndrome

Pediatric Neurology Briefs, 1990
Congeni tal fiber type disproportion myopathy is described in two brothers with oculo-cerebro-renal syndrome of Lowe from the Department of Pediatrics, Tsuchiura Kyoudou Hospital; Ibaraki; Tsukuba University; Tokyo Medical and Dental University; and ...
J Gordon Millichap
doaj   +1 more source

Floppy Infant Syndrome: new approach to the study of neonatal hypotonia through the analysis of a rare case of X-Linked Myotubular Myopathy

Journal of Pediatric and Neonatal Individualized Medicine, 2014
The Floppy Infant Syndrome includes a variety of signs and symptoms: decrease in muscle tone (hypotonia), in muscle power (weakness) and ligamentous laxity and increased range of joint mobility.
Massimiliano De Vivo, Silvana Rojo, Roberto Rosso, Giovanni Chello, Paolo Giliberti   +4 more
doaj   +1 more source

Anti-AAV Antibodies in AAV Gene Therapy: Current Challenges and Possible Solutions

Frontiers in Immunology, 2021
Adeno-associated virus (AAV) vector-based gene therapy is currently the only in vivo gene therapy approved in the US and Europe. The recent tragic death of three children in a clinical trial to treat X-Linked Myotubular Myopathy by delivering ...
Thomas Weber, Thomas Weber
doaj   +1 more source

First person – Suzie Buono and Arnaud Monseur

Disease Models & Mechanisms, 2022
First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers.
doaj   +1 more source

Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice. [PDF]

PLoS Genetics, 2012
Myotubularin MTM1 is a phosphoinositide (PPIn) 3-phosphatase mutated in X-linked centronuclear myopathy (XLCNM; myotubular myopathy). We investigated the involvement of MTM1 enzymatic activity on XLCNM phenotypes.
Leonela Amoasii, Dimitri L Bertazzi, Hélène Tronchère, Karim Hnia, Gaëtan Chicanne, Bruno Rinaldi, Belinda S Cowling, Arnaud Ferry, Bruno Klaholz, Bernard Payrastre, Jocelyn Laporte, Sylvie Friant   +11 more
doaj   +1 more source

X-linked myotubular myopathy and recurrent spontaneous pneumothorax: A new phenotype? [PDF]

Neurol Genet, 2019
X-linked myotubular myopathy (XLMTM) is a rare hereditary disorder of the skeletal muscle. Symptoms include impaired respiration and muscular hypotonia, usually present at birth and leading to death during infancy or early childhood.1 Pneumothorax ...
Carstens PO, Schwaibold EMC, Schregel K, Obermaier CD, Wrede A, Zechel S, Pauli S, Schmidt J.   +7 more
europepmc   +2 more sources

Genetic and Pharmacologic Inhibition of Myostatin Restores Muscle Mass in a Dynamin 2‐Related Centronuclear Myopathy Mouse Model

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 5, October 2026.
ABSTRACT Background Autosomal dominant centronuclear myopathy (ADCNM), most commonly caused by mutations in the dynamin 2 (DNM2) gene, is a rare congenital myopathy characterized by progressive muscle weakness and atrophy. Myostatin, a key negative regulator of skeletal muscle mass, has shown therapeutic potential in several models of neuromuscular ...
Durieux Anne‐Cécile, Arnould David, Velarde Mathias, Allibert Valentine, Paret Chloé, Debelley Quentin, Kizilkilic Esra, Chambon Sidney, Girard Emmanuelle, Collin Louise, Gensel Alexandre, Castells Josiane, Pasternack Aja, Bowen Maximilien, Morel Baptiste, Hourdé Christophe, Laurent Schaeffer, Ritvos Olli, Bitoun Marc, Mounier Rémi, Freyssenet Damien   +20 more
wiley   +1 more source

Safety considerations of gene‐based therapies for Alzheimer's disease

Alzheimer's &Dementia, Volume 22, Issue 7, July 2026.
Abstract Gene‐based therapies show increasing promise for the treatment of neurologic disease. In 2016, nusinersen, an RNA‐based therapy, was approved for children with spinal muscular atrophy (SMA). Over 200 clinical trials have utilized gene therapy approaches for a host of neurodegenerative and neuromuscular disorders, including Alzheimer's disease (
Elizabeth A. Bevins, Gabriel C. Léger, Michelle A. Herman, John M. Ringman, Subhojit Roy, Matthew Shtrahman, Judy Pa, Howard H. Feldman   +7 more
wiley   +1 more source

Congenital Myopathies and Muscular Dystrophies: A Single Tertiary Center Experience and Factors Associated With Long‐Term Outcomes

Muscle &Nerve, Volume 74, Issue 1, Page 121-130, July 2026.
ABSTRACT Introduction/Aims Data on respiratory, feeding, ambulatory outcomes and prognostic factors for congenital myopathies (CM) and congenital muscular dystrophies (CMD) remain limited. Therefore, in this study, we report the characteristics of a large single‐center cohort of patients with CM and CMD, focusing on long‐term outcomes and aiming to ...
Can Ozlu, Margaret McGurn, Susan Iannaccone, Zurisadai Gonzalez Castillo, Kaitlin Batley   +4 more
wiley   +1 more source