Haluk Topaloglu
Haluk Topaloglu
Congenital myopathies represent a clinically and genetically heterogeneous group of early-onset neuromuscular diseases with characteristic, but not always specific, histopathological features, often presenting with stable and/or slowly prog...
Marco Savarese,Jaakko Sarparanta,Anna Vihola et al.
Marco Savarese et al.
Distal myopathies are genetic primary muscle disorders with a prominent weakness at onset in hands and/or feet. The age of onset (from early childhood to adulthood), the distribution of muscle weakness (upper versus lower limbs) and the his...
Marianne de Visser
Marianne de Visser
Late-onset myopathies are not well-defined since there is no clear definition of 'late onset'. For practical reasons we decided to use the age of 40 years as a cut-off. There are diseases which only manifest as late onset myopathy (inclusio...
Giovanni Meola
Giovanni Meola
The myotonic dystrophies are the commonest cause of adult-onset muscular dystrophy. Phenotypes of DM1 and DM2 are similar, but there are some important differences, including the presence or absence of congenital form, muscles primarily aff...
Alpha-sarcoglycanopathy presenting as myalgia and hyperCKemia in two adults with a long-term follow-up. Case reports [0.03%]
成人肌痛和高血清CK水平的α-肌连蛋白病两例长期随访报告
Claudia Dosi,Anna Rubegni,Denise Cassandrini et al.
Claudia Dosi et al.
Two patients with a paucisymptomatic hyperckemia underwent a skeletal muscle biopsy and massive gene panel to investigate mutations associated with inherited muscle disorders. In the SGCA gene, sequence analyses revealed a homozygous c.850C...
Corrado Angelini
Corrado Angelini
The term 'limb girdle muscular dystrophy' (LGMD) was first used in the seminal paper by Walton and Nattrass in 1954, were they identified LGMD as a separate clinical entity In LGMD description it is pointed out that the category of LGMD mos...
Quadriceps muscle strength in Duchenne muscular dystrophy and effect of corticosteroid treatment [0.03%]
皮质类固醇治疗杜氏肌营养不良对股四头肌力量的影响
Luciano Merlini,Ilaria Cecconi,Antonia Parmeggiani et al.
Luciano Merlini et al.
Objectives: In Duchenne muscular dystrophy, quadriceps weakness is recognized as a key factor in gait deterioration. The objective of this work was three-fold: first, to document the strength of the quadriceps in corticos...
Impaired myocardial strain in early stage of Duchenne muscular dystrophy: its relation with age and motor performance [0.03%]
杜氏肌营养不良早期阶段心肌应变异常及其与年龄和运动功能的关系
Lilia Oreto,Gian Luca Vita,Giuseppe Mandraffino et al.
Lilia Oreto et al.
Duchenne muscular dystrophy (DMD) is complicated by an early and progressive left ventricular (LV) dysfunction. Despite the reduction of ejection fraction (EF) usually manifests in the second decade, subtle alterations in LV mechanics can b...
Giovanni Nigro and the Naples's school: historical contribution to the knowledge of heart involvement in Duchenne/Becker muscular dystrophies [0.03%]
尼格罗和那不勒斯学派对杜氏/贝克尔肌营养不良症心脏受累贡献的历史回顾
Luisa Politano
Luisa Politano
It is now accepted worldwide that cardiac involvement in Duchenne and Becker muscular Dystrophies, is a constant feature. The concurrent impairment of the heart as a muscle in dystrophic process was an inspired idea by Prof. Giovanni Nigro ...
Causes of clinical variability in Duchenne and Becker muscular dystrophies and implications for exon skipping therapies [0.03%]
杜氏肌营养不良和贝克尔肌营养不良的临床变异性原因及其对外显子跳读治疗的影响
Eric P Hoffman
Eric P Hoffman
Becker muscular dystrophy is caused by mutations in the DMD gene that permit significant residual dystrophin protein expression in patient muscle. This is in contrast to DMD gene mutations in Duchenne muscular dystrophy where little or no d...