Usefulness of the external loop recorder in a patient with Myotonic Dystrophy type 1 and recurrent episodes of palpitations: evaluation of the follow-up from diagnosis to 6 month-post-cardiac interventional treatment [0.03%]
植入式循环记录仪在外显率多发性肌无力症 I 型合并心悸复发患者中的诊断及心脏介入治疗后6个月的随访评估作用：病例报告
Anna Rago,Andrea Antonio Papa,Dario Galante et al.
Anna Rago et al.
A patient with Myotonic Dystrophy type 1 and recurrent episodes of palpitations is reported, in which the application of an external loop recorder (ELR) was useful for the diagnosis and post radiofrequency ablation follow-up of typical atri...
SIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese family [0.03%]
葡萄牙一家族远端遗传运动神经病的SIGMAR1基因突变
Luciano Almendra,Francisco Laranjeira,Ana Fernández-Marmiesse et al.
Luciano Almendra et al.
SIGMAR1 gene encodes a non-opioid endoplasmic reticulum (ER) protein which is involved in a large diversity of cell functions and is expressed ubiquitously in both central and peripheral nervous systems. Alterations of its normal function m...
Long term history of a congenital core-rod myopathy with compound heterozygous mutations in the Nebulin gene [0.03%]
NEB基因复合杂合突变的先天性核心-杆体肌病的长期自然史研究
Gilbert Wunderlich,Anna Brunn,Hülya-Sevcan Daimagüler et al.
Gilbert Wunderlich et al.
Mutations in the Nebulin gene (NEB) may cause core-rod myopathy. The large size of the gene so far prevented inclusion of its routine analysis by didesoxy resequencing methodology in the diagnostic regime for muscular dystrophy cases. Here ...
Novel mosaic mutation in the dystrophin gene causing distal asymmetric muscle weakness of the upper limbs and dilated cardiomyopathy [0.03%]
新的杜氏肌营养不良基因镶嵌突变致肢带型肌营养不良1型及扩张性心肌病
Joana Ribeiro,Olinda Rebelo,Ana Fernández-Marmiesse et al.
Joana Ribeiro et al.
A group of heterogeneous muscle diseases are caused by dystrophin gene (DMD) mutations. We hereby present a male patient with a diagnosis of symptomatic dilated cardiomyopathy at 44 years-old who developed, soon after, weakness of distal ri...
[This corrects the article on p. 41-45 in vol. 36.].
[This corrects the article on p. 19-24 in vol. 36.].
Ana Inês Martins,Cristin Maarque,Jorge Pinto-Basto et al.
Ana Inês Martins et al.
Mutations of the encoding genes of collagen VI (COL6A1, COL6A2 and COL6A3), are responsible for two classical phenotypes (with a wide range of severity), the Ullrich congenital muscular dystrophy (UCMD) and the Bethlem myopathy (BM). We pre...
Leber's hereditary optic neuropathy (LHON) in an Apulian cohort of subjects [0.03%]
阿普利亚人群中的莱伯遗传性视神经病变(LHON)患者研究
Angelica Bianco,Luigi Bisceglia,Paolo Trerotoli et al.
Angelica Bianco et al.
Leber's hereditary optic neuropathy (LHON) is a maternally inherited disorder that causes severe loss of sight in young adults, and is typically associated to mitochondrial DNA (mtDNA) mutations. Heteroplasmy of primary LHON mutations, pres...