Heart transplantation in a patient with Myotonic Dystrophy type 1 and end-stage dilated cardiomyopathy: a short term follow-up [0.03%]
一名终末期扩张型心肌病合并贝克特氏症I型患者的心脏移植短期随访报告
Andrea Antonio Papa,Federica Verrillo,Marianna Scutifero et al.
Andrea Antonio Papa et al.
Myotonic dystrophy type 1 (DM1) or Steinert's disease is the most common muscular dystrophy in adult life with an estimated prevalence of 1:8000. Cardiac involvement, including arrhythmias and conduction disorders, contributes significantly...
Danat Yermakovich,Larysa Sivitskaya,Tatiyana Vaikhanskaya et al.
Danat Yermakovich et al.
Desmoplakin is encoded by DSP gene, whose altered function leads to skin and hair abnormalities, and heart diseases. The whole triad of these traits characterizes the Carvajal syndrome (CS). CS is an autosomal recessive genetic disorder, ma...
Luisa Villa,Alberto Lerario,Sonia Calloni et al.
Luisa Villa et al.
Statin-induced necrotizing autoimmune myopathy (IMNM) is an autoimmune disorder induced by anti-3-hydroxy-3-methylglutaryl-coenzyme-A reductase (anti-HMGCR) antibodies. We performed a retrospective clinical, histological, and radiological e...
Milorad Vujnic,Stojan Peric,Zeljka Calic et al.
Milorad Vujnic et al.
Objectives: metabolic syndrome (MetS) increases risk of cardiovascular diseases and diabetes mellitus type 2. Aim of this study was to investigate frequency and features of MetS in a large cohort of patients with DM2. ...
The role of rehabilitation in the management of late-onset Pompe disease: a narrative review of the level of evidence [0.03%]
晚发型庞贝病管理中康复的作用：证据水平叙述性综述
Giovanni Iolascon,Michele Vitacca,Elena Carraro et al.
Giovanni Iolascon et al.
Late-onset Pompe disease (LOPD) is characterized by progressive muscle weakness, respiratory muscle dysfunction, and minor cardiac involvement. Although in LOPD, as in other neuromuscular diseases, controlled low impact sub-maximal aerobic ...
Myotonic dystrophy type 1 and pulmonary embolism: successful thrombus resolution with dabigatran etexilate therapy [0.03%]
Dabigatran etexilate治疗肌营养不良合并肺栓塞一例报告及文献复习
Emanuele Gallinoro,Andrea Antonio Papa,Anna Rago et al.
Emanuele Gallinoro et al.
Myotonic dystrophy type 1 (DM1) is the most common form of adult muscular dystrophy. It is an autosomal dominant inherited disease with multisystemic involvement. Respiratory function is often affected and respiratory failure is the most co...
LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation [0.03%]
沙特一家因DNAJB6突变导致包含体肌病1D型肌营养不良症的家系报告
Saeed A Bohlega,Sarah Alfawaz,Hussam Abou-Al-Shaar et al.
Saeed A Bohlega et al.
Autosomal dominant LGMD1D has been described in multiple families in Asia, Europe, and USA. However, to the best of our knowledge, no cases of LGMD1D have been reported among native Bedouin Saudi families. Fifty Saudi families with LGMD wer...
Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey [0.03%]
土耳其爱琴海地区儿童肢带型肌营养不良症
Uluç Yiş,Gülden Diniz,Filiz Hazan et al.
Uluç Yiş et al.
The aim of this study is to analyze the epidemiology of the clinical and genetic features of childhood-onset limb-girdle muscular dystrophies (LGMD) in the Aegean part of Turkey. In total fifty-six pediatric cases with LGMD followed in four...
Prevalence of metabolic syndrome and non-alcoholic fatty liver disease in a cohort of italian patients with spinal-bulbar muscular atrophy [0.03%]
意大利脊髓球部肌肉萎缩患者代谢综合征和非酒精性脂肪肝病的患病率
Francesco Francini-Pesenti,Giorgia Querin,Cristina Martini et al.
Francesco Francini-Pesenti et al.
Spinal-bulbar muscular atrophy (SBMA), is an X-linked motor neuron disease caused by a CAG-repeat expansion in the first exon of the androgen receptor gene (AR) on chromosome X. In SBMA, non-neural clinical phenotype includes disorders of g...
Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis [0.03%]
钾离子通道 Kir2.2(p Thr140met)基因变异与特发性周期性瘫痪相关性研究
Chunxiang Fan,Marius Kuhn,Alexander Pepler Mbiol et al.
Chunxiang Fan et al.
Introduction: Periodic paralyses (PP) are recurrent episodes of flaccid limb muscle weakness. Next to autosomal dominant forms, sporadic PP (SPP) cases are known but their genetics are unclear. ...