Clinical phenotypes and pathological features in myopathies with tubular aggregates / 中华神经科杂志

Objective To summarize clinical phenotypes and pathological characteristics in myopathies with tubular aggregates (TAs).Methods We reviewed 5 697 patients who performed muscle biopsies in our department between January 2001 and July 2015.We collected the cases with TAs and made classification based on their clinical diagnoses and pathological changes.Results Fifty-seven patients (1.00％) showed TAs in muscle specimens,including 50 (87.72％) males and 7 (12.28％) females.According to clinical,neurophysiological,pathological and genetic analysis,the diagnoses included 23 (40.35％) cases of periodic paralysis,7 (12.28％) cases of chronic alcohol intoxication,6 (10.53％) cases of congenital myasthenic syndrome,5 (8.77％) cases of exercise-induced cramps,3 (5.26％) cases of necrotizing myopathy,1 (1.75％) case of stromal interaction molecule 1-associated myopathy,limbgirdle muscular dystrophy 2E,myotonic dystrophy,myotonia congenita,paramyotonia congenitia,hypothyroid myopathy respectively.Other cases of unknown cause included unclassified distal myopathy,external ophthalmoplegia,white matter lesions,mental retardation,stroke,early onset weakness,pulmonary arterial hypertension.Besides TAs,pathological changes also included necrosis of muscle fibers (3 cases,5.26％),neurogenic changes (3 cases,5.26％) and muscular dystrophic changes (1 case,1.75％).Conclusions Our results indicated that TAs are usually found in males and could present in many types of hereditary or acquired neuromuscular disease as independent or accompanying changes.Periodic paralysis,chronic alcohol intoxication and congenital myasthenic syndrome are 3 major diseases causing myopathies with TAs.

The detection of a novel mutation by screening SCN4A gene in normokalemic periodic paralysis / 中华神经科杂志

Objective To detect a novel mutation in SCN4A gene related to normokalemic periodic paralysis (normoPP) in one Chinese family.Methods Genomic DNA of two patients and their relatives in this family was extracted from peripheral blood leukocytes and amplified by polymerase chain reaction (PCR). All 24 exons of SCN4A gene were screened with denaturing high performance liquid chromatography (DHPLC) technology,and then sequence analysis of those DHPLC chromatograms showing heteroduplex were compared with the unaffected controls.Results Routine laboratory tests were carried on within normal ranges with the exception of an elevated creatine kinase (1126 U/L,normal