Results 41 to 50 of about 7,618,843 (150)

ACTA1‐Related Adult‐Onset Scapuloperoneal Myopathy With Cores and Rods

Neuropathology and Applied Neurobiology, Volume 52, Issue 2, April 2026.
We report a patient with an adult‐onset, slowly progressive, ACTA1‐related scapuloperoneal myopathy with cores and rods, determined by the heterozygous variant NM_001100.4:c.1001C > T, p.(Pro334Leu). The scapuloperoneal phenotype could represent a distinct subcategory, and the characterisation of this patient with a less severe, different clinical ...
Alexandru Caramizaru, Marion Onnée, Sergey Nikitin, Amelia Dobrescu, Gianmarco Severa, Aysylu Murtazina, Andoni Urtizberea, Jean‐Pascal Lefaucheur, Robert‐Yves Carlier, Corinne Metay, Edoardo Malfatti   +10 more
wiley   +1 more source

Congenital Fiber Type Disproportion Genetics

, 2008
Novel heterogeneous missense mutations in five families with congenital fiber type disproportion (CFTD) were identified in a study at Children's Hospital at Westmead, University of Sydney, and other centers in Australia, Canada, and ...
J Gordon Millichap
core   +1 more source

A SPONTANEOUS MOUSE MODEL OF X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY [PDF]

, 2011
the subject of the thesis research project, aims to characterize a murine model for spontaneous muscle pathology comparable to human "X-Linked Vacuolar myopathy with Excessive Autophagy (XMEA)".
Iovane, Valentina
core   +1 more source

Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia

, 2010
Congenital myopathy with fibre type disproportion (CFTD) has been associated with mutations in ACTA1 SEPN1 RYR1 and TPM3 genes We report the clinico-pathological and electrophysiological features of 2 unrelated cases with heterozygous TPM3 mutation Case1
Jayawant, S., Laing, N., Munot, P., Palace, J., Beeson, D., Feng, L., Robb, S. A., Abbs, S., Muntoni, F., Sewry, C., Kennet, R., Pitt, M., Lashley, D., Jungbluth, H.; id_orcid, Cullup, T.   +14 more
core   +6 more sources

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

The main histological abnormality in congenital fiber type disproportion (CFTD) is hypotrophy of type 1 (slow twitch) fibers compared to type 2 (fast twitch) fibers.
Bushby K, Guglieri M, Lunardi J, Cooper S, Clarke N, Muntoni F, Lillis S, Waddell L, Farrell M, Marty I, King M, Monnier N, Smith R, Perry M, Straub V, Kornberg A, North K   +16 more
core   +5 more sources

Gene therapy for genetic diseases: challenges and future directions

MedComm, Volume 6, Issue 2, February 2025.
The graphical abstract provides an overview of gene therapy approaches, detailing the components of the therapy and the various delivery routes. Both in vivo and ex vivo strategies facilitate the implementation of gene replacement, gene suppression, gene supplementation, and gene editing.
Beibei Qie, Jianghua Tuo, Feilong Chen, Haili Ding, Lei Lyu   +4 more
wiley   +1 more source

A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps

European Journal of Neurology, Volume 32, Issue 1, January 2025.
Abstract Background and purpose Pathogenic variants in the RYR1 gene have been associated with a variety of conditions, ranging from congenital myopathy to adult manifestations. Our aim was to characterize the p.Leu2286Val variant in 17 Basque patients, to accurately determine its correlation with clinical features and to explore the possible founder ...
Alba Segarra‐Casas, Pablo Iruzubieta, Solange Kapetanovic, Aurelio Hernández‐Laín, Ivonne Jericó, Roberto Fernández‐Torrón, Miren Maneiro, Pablo Marco‐Moreno, M. Victoria Zelaya‐Huerta, Benjamín Rodríguez‐Santiago, Francesc Calafell, Ana Töpf, Volker Straub, Ainara Vallejo‐Illarramendi, Adolfo López de Munain, Pia Gallano, Lidia Gonzalez‐Quereda   +16 more
wiley   +1 more source

Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation

Human Mutation, Volume 2025, Issue 1, 2025.
RyR1‐related disorders, arising from variants in the RYR1 gene encoding the skeletal muscle ryanodine receptor, encompass a wide range of dominant and recessive phenotypes. The extensive length of RyR1 and diverse mechanisms underlying disease variants pose significant challenges for clinical interpretation, exacerbated by the limited performance and ...
Rolando Hernández Trapero, Mihaly Badonyi, Lukas Gerasimavicius, Joseph A. Marsh, Aziz ur Rehman Aziz   +4 more
wiley   +1 more source

A Case of Cogential Fiber Type Disproportion With Multiple Anomalies [PDF]

, 2006
Congenital fiber type disproportion (CFTD) is a rare form of congenital myopathy characterized by the smallness and the marked predominance of type 1 fibers, which presents congenital hypotonia, delayed motor milestones, joint contractures, and skeletal ...
김태승, 김세훈, 이영목, 이준수, 김흥동   +4 more
core  

Interpretation of elevated baseline concentrations and serial changes of high‐sensitivity cardiac troponin T in confirmed muscular dystrophies

ESC Heart Failure, Volume 11, Issue 6, Page 3732-3741, December 2024.
Abstract Aims Concentrations of high‐sensitivity cardiac troponin T (hs‐cTnT) are frequently elevated in stable patients with confirmed muscle dystrophies. However, sparse information is available on the interpretation of serial concentration changes. Methods Hs‐cTnT was collected in 35 stable outpatients with confirmed skeletal muscle dystrophies at 0
Mustafa Yildirim, Christoph Reich, Christian Salbach, Regina Pribe‐Wolferts, Barbara Ruth Milles, Tobias Täger, Matthias Mueller‐Hennessen, Markus Weiler, Benjamin Meder, Norbert Frey, Evangelos Giannitsis   +10 more
wiley   +1 more source