Results 51 to 60 of about 2,881 (205)
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 +2 more
doaj +1 more source
Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 1, February 2026.ABSTRACT Background Emery–Dreifuss muscular dystrophy (EDMD) is a progressive genetic myopathy that mainly affects the muscles used for movement (skeletal muscles) and the heart (cardiac muscles). The disease is frequently associated with mutations in genes encoding nuclear envelope proteins, most notably LMNA, which encodes lamin A—a critical ...
So‐mi Kang +11 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 +5 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 +7 more
doaj +1 more source
Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 6, December 2025.ABSTRACT Background Skeletal muscle aging is associated with oxidative stress and mitochondrial dysfunction. Peroxiredoxins (PRDXs), particularly PRDX3 and PRDX5, are antioxidant enzymes that are uniquely localized to mitochondria. While PRDX3 has been reported to play a role in maintaining mitochondrial function in muscle, the specific function of ...
Joonho Suh +6 more
wiley +1 more source
Genetic and Structural Variations in Czech Patients With Congenital Myopathies
Clinical Genetics, Volume 108, Issue 6, Page 678-683, December 2025.We present 79 unrelated patients with genetically confirmed congenital myopathy (CM). A total of 113 mutant alleles carrying 97 different variants with a presumed pathogenic effect were identified. All but five variants were small scale. The mode of inheritance was autosomal dominant (AD) (44.3%), autosomal recessive (AR) (43.0%), and X‐linked (XL) (12.
Jana Zídková +26 more
wiley +1 more source
Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS [PDF]
, 2015 published_or_final_versio
Chen, WT +12 more
core +1 more source
Health Expectations, Volume 28, Issue 6, December 2025.ABSTRACT Introduction Neuromuscular diseases (NMDs) impose multifaceted challenges on individuals and their families, often resulting in significant medical and non‐medical expenses. While cost‐of‐illness (COI) studies provide valuable quantitative data, few explore the lived experience of financial strain.
Homira Osman +13 more
wiley +1 more source
A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course
Acta Neuropathologica Communications, 2021 The ryanodine receptor RyR1 is the main sarcoplasmic reticulum Ca2+ channel in skeletal muscle and acts as a connecting link between electrical stimulation and Ca2+-dependent muscle contraction.
Valérie Biancalana +30 more
doaj +1 more source
Dynamin 2 mutations in Charcot-Marie-Tooth neuropathy highlight the importance of clathrin-mediated endocytosis in myelination [PDF]
, 2017 Mutations in dynamin 2 (DNM2) lead to dominant intermediate Charcot-Marie-Tooth neuropathy type B, while a different set of DNM2 mutations cause autosomal dominant centronuclear myopathy.
Bock, Thomas +9 more
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