A Novel De Novo Heterozygous SCN4a Mutation Causing Congenital Myopathy, Myotonia and Multiple Congenital Anomalies [0.03%]
新发的SCN4A杂合突变导致先天性肌病、肌强直和多发性先天畸形
Megan Waldrop,Jakkrit Amornvit,Christopher R Pierson et al.
Megan Waldrop et al.
Background: The phenotypic spectrum of the skeletal muscle voltage-gated sodium channel gene (SCN4A) mutations has been expanding dramatically with advancements in genetic testing. Previously only known to cause autosomal...
One Year of Newborn Screening for SMA - Results of a German Pilot Project [0.03%]
德国一项脊髓性肌萎缩症新生儿筛查试点项目的1年结果分析
Katharina Vill,Heike Kölbel,Oliver Schwartz et al.
Katharina Vill et al.
Objective: Spinal muscular atrophy (SMA) is the most common neurodegenerative disease in childhood. The study was conducted to assess the impact of early detection of SMA by newborn screening (NBS) on the clinical course ...
A Mutation in the Mitochondrial Aspartate/Glutamate Carrier Leads to a More Oxidizing Intramitochondrial Environment and an Inflammatory Myopathy in Dutch Shepherd Dogs [0.03%]
荷兰牧羊犬线粒体内载体蛋白AGC1发生突变导致细胞内氧化环境改变和炎症性肌病发病
G Diane Shelton,Katie M Minor,Kefeng Li et al.
G Diane Shelton et al.
Background: Inflammatory myopathies are characterized by infiltration of inflammatory cells into muscle. Typically, immune-mediated disorders such as polymyositis, dermatomyositis and inclusion body myositis are diagnosed...
Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 - A Prospective Observational Study [0.03%]
长期存在的成人型5q SMA III 型患者中nusinersen的安全性和疗效——一项前瞻性观察研究
Maggie C Walter,Stephan Wenninger,Simone Thiele et al.
Maggie C Walter et al.
Objective: Spinal muscular atrophy (SMA) is a progressive autosomal recessive motor neuron disease caused by loss of the SMN1 gene. Based on randomized clinical trials in children with SMA type 1 and 2, Nusinersen has bee...
Observational Study
Journal of neuromuscular diseases. 2019;6(4):453-465. DOI:10.3233/JND-190416 2019
Danique Beijer,Angela Sisto,Jonas Van Lent et al.
Danique Beijer et al.
Axonal transport is a highly complex process essential for sustaining proper neuronal functioning. Disturbances can result in an altered neuronal homeostasis, aggregation of cargoes, and ultimately a dying-back degeneration of neurons. The ...
The Added Value of Cardiac Magnetic Resonance in Muscular Dystrophies [0.03%]
心肌磁共振在肌肉营养不良中的应用价值评估研究进展
Mariana M Lamacie,Jodi Warman-Chardon,Andrew M Crean et al.
Mariana M Lamacie et al.
Muscular dystrophies (MD) represent a heterogeneous group of rare genetic diseases that often lead to significant weakness due to progressive muscle degeneration. In many forms of MD, cardiac manifestations including heart failure, atrial a...
Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation [0.03%]
CAPN3基因深内含子新型突变的鉴定及其作为治疗性剪接调控靶点的潜力
Ying Hu,Payam Mohassel,Sandra Donkervoort et al.
Ying Hu et al.
Calpainopathy, also known as limb girdle muscular dystrophy (LGMD) type 2A (LGMD2A) or LGMD R1 Calpain3-related, is one of the most common genetically characterized forms of limb-girdle muscular dystrophy with a wide range of phenotypic sev...
Bulbar Problems Self-Reported by Children and Adults with Spinal Muscular Atrophy [0.03%]
脊髓性肌萎缩患者自述的球麻痹问题
A M B van der Heul,C A Wijngaarde,R I Wadman et al.
A M B van der Heul et al.
Background: Spinal muscular atrophy (SMA) is hereditary motor neuron disorder, characterised by the degeneration of motor neurons and progressive muscle weakness. It is caused by the homozygous loss of function of the sur...
Inès Barthélémy,Christophe Hitte,Laurent Tiret
Inès Barthélémy
Dogs have long been used as a biomedical model system and in particular as a preclinical proof of concept for innovative therapies before translation to humans. A recent example of the utility of this animal model is the promising myotubula...