Results 31 to 40 of about 658 (148)

Potential compensatory mechanisms preserving cardiac function in myotubular myopathy [PDF]

Cell Mol Life Sci
X-Linked myotubular myopathy (XLMTM) is characterized by severe skeletal muscle weakness and reduced life expectancy. The pathomechanism and the impact of non-muscular defects affecting survival, such as liver dysfunction, are poorly understood. Here, we
Simon, A. (Alix), Diedhiou, N. (Nadege), Grandgirard, E. (Erwan), Diedhiou, Nadège, Reiss, D. (David), Reiss, David, Laporte, Jocelyn, Goret, M. (Marie), Simon, Alix, Grandgirard, Erwan, Laporte, J. (Jocelyn), Goret, Marie   +11 more
core   +2 more sources

Correction to: Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies [PDF]

Orphanet Journal of Rare Diseases, 2022
Adele D’Amico, Antonella Longo, Fabiana Fattori, Michele Tosi, Luca Bosco, Maria Beatrice Chiarini Testa, Maria Giovanna Paglietti, Claudio Cherchi, Adelina Carlesi, Irene Mizzoni, Enrico Bertini   +10 more
doaj   +2 more sources

Long‐term outcomes for females with early‐onset dystrophinopathy

Developmental Medicine &Child Neurology, Volume 65, Issue 8, Page 1093-1104, August 2023., 2023
What this paper adds No standard diagnostic procedures seem to exist for female patients suspected for dystrophinopathy. Female participants with early‐onset dystrophinopathy experienced a broad scope of burdening symptoms, such as fatigue, myalgia, lower back pain, and arthralgia. None of participants worked full time, all felt restricted in paid work,
Saskia L. S. Houwen‐van Opstal, Ramon O. Tak, Maaike Pelsma, Frederik M. A. van den Heuvel, Hermine A. van Duyvenvoorde, Edith H. C. Cup, Lilian T. L. Sie, Johan S. H. Vles, Imelda J. M. de Groot, Nicol C. Voermans, Michel A. A. P. Willemsen   +10 more
wiley   +1 more source

A case of giant dental calculus in a patient with centronuclear myopathy

Special Care in Dentistry, Volume 43, Issue 4, Page 481-485, July/August 2023., 2023
Abstract Introduction Centronuclear myopathy is a hereditary congenital muscle disease. It is characterized by generalized muscle hypotonia from early childhood, elongated cacial appearance, mandibular undergroth, and dental malposition. In this report, we discuss the clinical course and management of a patient with centronuclearmyopathy, who developed
Ryosuke Iwama, Hirokazu Nagai, Naoki Suzuki, Rumiko Izumi, Hiroyuki Kumamoto, Tetsu Takahashi   +5 more
wiley   +1 more source

European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders

European Journal of Neurology, Volume 29, Issue 12, Page 3486-3507, December 2022., 2022
This consensus statement summarizes the most important recommendations concerning anaesthesia in patients with neuromuscular disorders. Abstract Background and purpose Patients with neuromuscular conditions are at increased risk of suffering perioperative complications related to anaesthesia.
Luuk R. van den Bersselaar, Luc Heytens, Helga C. A. Silva, Jens Reimann, Giorgio Tasca, Óscar Díaz‐Cambronero, Nicoline Løkken, Anna Hellblom, Philip M. Hopkins, Henrik Rueffert, Börge Bastian, Juan Jesus Vilchez, Robyn Gillies, Stephan Johannsen, Francis Veyckemans, Tino Muenster, Andrea Klein, Ron Litman, Heinz Jungbluth, Sheila Riazi, Nicol C. Voermans, Marc M. J. Snoeck   +21 more
wiley   +1 more source

Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations

, 2001
Although X-linked myotubular myopathy (XLMTM) is a recessive disorder, heterozygous female carriers of MTM1 mutations may present with limb girdle and facial weakness.
Winer, John, McDonald, F, Sutton, Ian, Norman, Andrew, Liediti-Gallati, S   +4 more
core   +5 more sources

Viral gene therapy for paediatric neurological diseases: progress to clinical reality

Developmental Medicine &Child Neurology, Volume 63, Issue 9, Page 1019-1029, September 2021., 2021
In the era of genomic medicine, diagnoses of rare paediatric neurological diseases are increasing. Many are untreatable and life‐limiting, leading to an exceptional increase in gene therapy development. It is estimated that 20 gene therapy products will have received approval from the US Food and Drug Administration by 2025.
Riccardo Privolizzi, Wing Sum Chu, Maha Tijani, Joanne Ng   +3 more
wiley   +1 more source

Congenital dyserythropoiesis and polymyopathy without cardiac disease in male Labrador retriever littermates

Journal of Veterinary Internal Medicine, Volume 35, Issue 5, Page 2409-2414, September/October 2021., 2021
Abstract Background Two Labrador retriever littermates were identified based on incidentally noted marked microcytosis and inappropriate metarubricytosis. Muscle atrophy was noted and associated with distinctive pathological findings in biopsy samples from 1 dog studied.
Alison Thomas‐Hollands, G. Diane Shelton, Ling T. Guo, Kerry Loughran, Gregory Kaiman, Tabitha A. Hutton, Koranda A. Walsh   +6 more
wiley   +1 more source

A novel mutation in MTM1 gene in newborn, resulting in centronuclear myopathy phenotype: a case report

Egyptian Journal of Medical Human Genetics, 2021
Background The X-linked myotubular myopathy (XLMTM) is a rare congenital disease. Its main symptoms are hypotonia, dysmorphic facial features, respiratory failure, and feeding disorder. Case presentation This study reports on a male patient from Neonatal
Aleksandra Dudzik, Weronika Nedza, Katarzyna Końska, Katarzyna Starzec, Tomasz Tomasik, Andrzej Grudzień, Mateusz Jagła, Wojciech Durlak, Przemko Kwinta   +8 more
doaj   +1 more source

Phosphoinositide regulation of integrin trafficking required for muscle attachment and maintenance. [PDF]

PLoS Genetics, 2011
Muscles must maintain cell compartmentalization when remodeled during development and use. How spatially restricted adhesions are regulated with muscle remodeling is largely unexplored.
Inês Ribeiro, Lin Yuan, Guy Tanentzapf, James J Dowling, Amy Kiger   +4 more
doaj   +1 more source