Results 61 to 70 of about 7,553,951 (168)

Dementia in a child with myotubular myopathy.

, 2009
International audienceAn 8-year old boy with genetically confirmed X-linked myotubular myopathy developed progressively worsening dementia and subclinical seizures at age 5-6 years.
Ment, Laura, Ment, Laura, R., Laporte, Jocelyn, Mccrea, Heather, J., Kretz, Christine, Mccrea, Heather   +5 more
core   +1 more source

New insights into applications of base editor in hereditary disorders

Interdisciplinary Medicine, Volume 3, Issue 6, November 2025.
Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai, Linhui Zhang, Liqing Li, Yue Liu, Canbin Lv, Yan Shi, Jianyuan Zhao, Dingwei Ye, Yuanyuan Qu   +8 more
wiley   +1 more source

OXPHOS complex deficiency in congenital myopathy: A systematic review

European Journal of Clinical Investigation, Volume 55, Issue 11, November 2025.
This systematic review assessed oxidative phosphorylation (OXPHOS) complex dysfunction in genetically confirmed congenital myopathies (CM). Among 5841 studies screened, 23 publications, comprising 45 CM cases, met the inclusion criteria. OXPHOS dysfunction was identified in 78% of cases, particularly where enzymology was performed, with RYR1 most ...
Megan J. du Preez, Maryke Schoonen, Monray E. Williams, Michelle Bisschoff, Francois H. van der Westhuizen   +4 more
wiley   +1 more source

X-linked myotubular myopathy in a family with two infant siblings: a case with MTM1 mutation [PDF]

, 2011
X-linked myotubular myopathy (XLMTM) is a rare congenital muscle disorder, caused by mutations in the MTM1 gene. Affected male infants present severe hypotonia, and generalized muscle weakness, and the disorder is most often complicated by respiratory ...
이진성, Min Soo Park, 박민수, 남궁란, 이철, Kook In Park, 김세훈, Jin Sung Lee, 박국인, Chul Lee, Ji Hyun Jeon, Se Hoon Kim, Ran Namgung   +12 more
core   +1 more source

Mechanical Stimulation Induces Yap Mediated OCTN2 Transcription to Enhance Carnitine Metabolism in Sarcopenia

Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 5, October 2025.
ABSTRACT Background Sarcopenia is a systemic skeletal muscle disease that seriously affects the health of the aged population. Exercise prevents sarcopenia, but the underlying mechanobiological and metabolic mechanisms need to be further investigated. Methods Carnitine and organic cation transporter 2 (OCTN2) levels were assessed in humans and animals ...
Yahong Lu, Yu Bai, Weiqing Li, Zhiguo Zhou, Heihuan Lai, Xingyu Hu, Tao Yang, Chendi Wang, Yitao Chen, Keping Gan, Kechi Li, Haiwei Ma, Lin Shen, Dengwei He   +13 more
wiley   +1 more source

Exploring AAV‐Mediated Gene Therapy for Inner Ear Diseases: from Preclinical Success to Clinical Potential

Advanced Science, Volume 12, Issue 33, September 4, 2025.
Current preclinical studies of AAV‐mediated gene therapy explore different strategies based on the characteristics of inner ear diseases. For genetic hearing loss, approaches include the replacement of a “good gene,” removal of a “bad gene,” or direct correction of mutations through base editing.
Fan Wu, Wuhui He, Yun Xiao, Qiong Wu, Qing Zhang, Tiesong Zhang, Lei Xu, Xinyi Pang   +7 more
wiley   +1 more source

Respiratory Muscle Strength in Healthy Children Aged 6 Years and Under: An Observational Study

Pediatric Pulmonology, Volume 60, Issue 9, September 2025.
ABSTRACT Study Question Measurement of respiratory muscle strength is important in the assessment and management of neuromuscular diseases. Reference data are essential for interpretation of clinical findings, but are lacking in infants and young children. This study aimed to provide reference data for maximum inspiratory (PImax) and maximum expiratory
Kayley Noxell, Emily Acquaye, Vicky MacBean   +2 more
wiley   +1 more source

Pathogenic mechanisms in centronuclear myopathies

Frontiers in Aging Neuroscience, 2014
Centronuclear myopathies (CNMs) are a genetically heterogeneous group of inherited neuromuscular disorders characterized by clinical features of a congenital myopathy and abundant central nuclei as the most prominent histopathological feature.
Heinz eJungbluth, Mathias eGautel
doaj   +1 more source

Centronuclear myopathy in a Labrador Retriever presenting for evaluation of a ‘bunny‐hopping’ gait

Veterinary Record Case Reports, Volume 13, Issue 3, September 2025.
Abstract A 3‐year‐old female neutered Labrador Retriever presented with a chronic history of ‘bunny‐hopping’ gait, presumed secondary to hip dysplasia. They exhibited moderate exercise intolerance, developing a stiff, short‐strided gait and collapsing into sternal recumbency after a brief period of exercise.
Aishling Lande, Richard Lawn, Sophie Martin   +2 more
wiley   +1 more source

Centronuclear (myotubular) myopathy

Orphanet Journal of Rare Diseases, 2008
Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterised by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.
Wallgren-Pettersson Carina, Jungbluth Heinz, Laporte Jocelyn   +2 more
doaj   +1 more source