Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in TK2 gene [0.03%]
TK2基因纯合c.416C>T突变患者的轻度肌病表型
George K Papadimas,Efthimia Vargiami,Pinelopi Dragoumi et al.
George K Papadimas et al.
The mitochondrial DNA depletion syndrome (MDDS) is characterized by extensive phenotypic variability and is due to nuclear gene mutations resulting in reduced mtDNA copy number. Thymidine kinase 2 (TK2) mutations are well known to be associ...
Respiratory muscle involvement in HNRNPDL LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient [0.03%]
HNRNPDL基因相关的LGMD D3型肌肉营养不良患者的呼吸肌受累：首个意大利患者详尽的临床描述
Edoardo Malfatti,Denise Cassandrini,Anna Rubegni et al.
Edoardo Malfatti et al.
Limb girdle muscular dystrophy is a genetically inherited condition that primarily affects skeletal muscle leading to progressive, predominantly proximal muscle weakness at presentation. Autosomal dominant LGMD represent 10% of all LGMDs. H...
Neuromuscular tetanic hyperexcitability syndrome associated to a heterozygous Kv1.1 N255D mutation with normal serum magnesium levels [0.03%]
与Kv1.1 N255D杂合突变相关的正常血清镁水平的神经肌肉强直性高兴奋性综合征
Francesca Bianchi,Costanza Simoncini,Raffaella Brugnoni et al.
Francesca Bianchi et al.
Mutations of the main voltage-gated K channel members Kv1.1 are linked to several clinical conditions, such as periodic ataxia type 1, myokymia and seizure disorders. Due to their role in active magnesium reabsorption through the renal dist...
Myotonic dystrophy type 1 and high ventricular vulnerability at the electrophysiological evaluation: ICD yes or not? [0.03%]
肌强直性营养不良I型患者的心电生理检查中的高室性心律失常易感性：植入式心脏除颤器置入的适应证吗？
Giusy Sirico,Andrea Montisci,Francesco Secchi et al.
Giusy Sirico et al.
A significant number of sudden death (SD) is observed in myotonic dystrophy (DM1) despite pacemaker implantation and some consider the ICD to be the preferential device in patients with conduction disease. According to the latest guidelines...
Facioscapulohumeral muscular dystrophy (FSHD) and multiple sclerosis: a case report [0.03%]
面部肩胛肱型肌营养不良症（FSHD）和多发性硬化症：一例报告
Rosa Iodice,Lorenzo Ugga,Francesco Aruta et al.
Rosa Iodice et al.
Facioscapulohumeral muscular dystrophy 1 (FSHD1) is an autosomal dominant neuromuscular disorder, associated with reduction of tandemly arrayed repetitive DNA elements D4Z4 (DRA), at 4q35. Few cases, especially carriers of 1-3 DRA show a sy...
Laing early-onset distal myopathy with subsarcolemmal hyaline bodies caused by a novel variant in the MYH7 gene [0.03%]
早发远端肌病伴肌膜下透明体的赖宁氏病一种新的MYH7基因突变导致的研究
Luís Negrão,Rita Machado,Miguel Lourenço et al.
Luís Negrão et al.
Myopathies caused by MYH7 gene mutations are clinically and pathologically heterogeneous and, until recently, difficult to diagnose. The availability of NGS panels for hereditary neuromuscular diseases changed our insight regarding their fr...
Late-onset MADD: a rare cause of cirrhosis and acute liver failure? [0.03%]
晚发MADD：一种罕见的肝硬化和急性肝衰竭病因？
Patrick Soldath,Allan Lund,John Vissing
Patrick Soldath
Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is a severe inborn error of fat metabolism. In late-onset MADD, hepatopathy in the form of steatosis is commonplace and considered a benign and stable condition that does not prog...
Identification, molecular characterization and segregation analysis of a variant DMPK pre-mutation allele in a three-generation Italian family [0.03%]
一个意大利三世家族中变异型DMPK前突变等位基因的鉴定、分子表征及分离分析
Luana Fontana,Massimo Santoro,Maria Rosaria D&#x;Apice et al.
Luana Fontana et al.
DM1 is an autosomal dominant multisystemic disease caused by an unstable CTG repeat expansion in the 3'-untranslated region (UTR) of the DMPK gene. The complex variant DMPK expanded the alleles containing CAG, CCG, CTC and/or GGC interrupti...
Coagulation disorders in Duchenne muscular dystrophy? Results of a registry-based online survey [0.03%]
Duchenne肌营养不良症凝血障碍？基于注册表的在线调查结果
David C Schorling,Cornelia K Müller,Astrid Pechmann et al.
David C Schorling et al.
Different complications of hemostasis have been reported in patients with Duchenne Muscular Dystrophy (DMD). These comprise an increased rate of bleeding-symptoms during scoliosis surgery but also thromboembolic complications such as pulmon...
Stojan Peric,Bogdan Bjelica,Ivo Bozovic et al.
Stojan Peric et al.
Objectives: Cross-sectional studies reported fatigue in 50-90% of patients with myotonic dystrophy type 1 (DM1). The aim of this research was to assess frequency of fatigue in DM1 patients during a seven-year period. ...