Results 51 to 60 of about 25,797 (180)

Coexistence of central nucleus, cores, and rods: Diagnostic relevance

Annals of Indian Academy of Neurology, 2016
Background: Congenital myopathies (CMs) though considered distinct disorders, simultaneous occurrence of central nucleus, nemaline rods, and cores in the same biopsy are scarcely reported. Objective: A retrospective reassessment of cases diagnosed as CMs
Sathiyabama Dhinakaran, Rashmi Santhosh Kumar, Ravindra Thakkar, Gayathri Narayanappa   +3 more
doaj   +1 more source

SEQUENCE VARIANTS IN THE RYR1 GENE AND GENETIC DISEASES: MALIGNANT HYPERTHERMIA AND CONGENITAL MYOPATHIES [PDF]

, 2009
This PhD thesis has been focused on the identification and functional characterization of sequence variants in the RYR1 gene, associated with Malignant hyperthermia (MH) and some congenital myopathies (CMs).
Perrotta, Giuseppa
core   +1 more source

BIN1 and ALDH1B1 Deficiency in Colonic Smooth Muscle Drives Mitochondrial Dysfunction and Fibrosis in Slow‐Transit Constipation

Advanced Science, Volume 13, Issue 50, 7 September 2026.
Slow‐transit constipation (STC) is a disabling motility disorder with unclear smooth‐muscle mechanisms. Spatial proteomic analysis of STC patient colon reveals both the central pathogenic role of smooth muscle cells (SMCs) in STC and novel regulators of intestinal motility, BIN1 and ALDH1B1.
Jianbo Liu, Hao Zhang, Wenhao Qiao, Ran Liu, Jie Sun, Xiaopei Li, Qin Li, Dongbo Zhao, Dawei Chen, Jingxin Li, Shuxiao Dong   +10 more
wiley   +1 more source

X-linked Myotubular Myopathy with a Novel MTM1 Mutation in a Taiwanese Child

Journal of the Formosan Medical Association, 2008
We report a male, preterm newborn infant with X-linked myotubular myopathy, the most severe type of the disease. He presented at birth with generalized hypotonia, difficulty in swallowing, and respiratory distress with frequent episodes of atelectasis ...
Chia-Ying Chang, Shuan-Pei Lin, Hsiang-Yu Lin, Chih-Kuang Chuang, Che-Sheng Ho, Yi-Ning Su   +5 more
doaj   +1 more source

From Pits to Plaques: Electron Microscopy Reveals Clathrin Structural Plasticity in Trafficking, Sorting and Adhesion

Traffic, Volume 27, Issue 3, September 2026.
Clathrin plaques (magenta) form large, flat membrane‐associated lattices embedded within the cortical actin cytoskeleton, and can be distinguished from individual clathrin‐coated pits (yellow). These structures are surrounded by a dense network of actin filaments and associated proteins, illustrating the intimate structural coupling between clathrin ...
Marion Benoist, Stéphane Vassilopoulos
wiley   +1 more source

Diagnosis of a Centronuclear Myopathy Case in Appalachia 20 Years from Symptom Onset

Marshall Journal of Medicine, 2018
Dynamin 2 (DMN2) mutations cause centronuclear myopathy (CNM) and Charcot Marie Tooth (CMT). Herein we discuss the details of a patient's case of adult onset CNM.
Christopher Burrell , Zachary Wilson, Dominika Lozowska   +2 more
doaj   +1 more source

Development of versatile allele-specific siRNAs able to silence all the dominant dynamin 2 mutations

Molecular Therapy: Nucleic Acids, 2022
Dominant centronuclear myopathy (CNM) is a rare form of congenital myopathy associated with a wide clinical spectrum, from severe neonatal to milder adult forms.
Swati Dudhal, Lylia Mekzine, Bernard Prudhon, Karishma Soocheta, Bruno Cadot, Kamel Mamchaoui, Delphine Trochet, Marc Bitoun   +7 more
doaj   +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

DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy

Genetics and Molecular Biology, 2015
Centronuclear myopathy (CNM) is a rare congenital muscle disease characterized by fibers with prominent centralized nuclei in muscle biopsies. The disease is clinically heterogeneous, ranging from severe neonatal hypotonic phenotypes to adult-onset mild ...
Osorio Abath Neto, Cristiane de Araújo Martins, Mary Carvalho, Gerson Chadi, Katia Werneck Seitz, Acary Souza Bulle Oliveira, Umbertina Conti Reed, Jocelyn Laporte, Edmar Zanoteli   +8 more
doaj   +1 more source

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

Clinical Genetics, Volume 110, Issue 1, Page 15-28, July 2026.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem, Denise de Abreu Pereira, Katia Carneiro   +2 more
wiley   +1 more source