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Neurogenetic diseases are difficult to diagnose due to complicated phenotypes. Genetic testing is always the option for final diagnosis. With the progress and update of molecular diagnostic techniques, especially widely usage of next-generation sequencing (NGS), choosing proper sequencing methods is a new challenge. This paper aims to review different strategies and problems of genetic diagnosis for monogenic neurogenetic diseases based on clinical phenotypes, gene mutation characteristics and gene sequencing methodology. [ABSTRACT FROM AUTHOR]

Objective To study the muscular pathological characteristics in riboflavin-responsive lipid storage myopathy before and after treatment. Methods A 10-year follow-up visit was made on a patient with riboflavin - responsive lipid storage myopathy, and the changes of serum enzymes, and both histological and ultrastructural data acquired by general muscular pathology, immunohistochemistry and electron microscope were observed before and after treatment by using levocarnitine. ETFDH gene were detected in the patient and his family. Results The patient presented limb weakness, difficulty in raising head and dysphagia, which were typical clinical features of lipid storage myopathy (LSM). The serum creatine kinase (CK) level and lactic dehydrogenase (LDH) level elevated evidently. EMG showed myogenic abnormality, and muscular pathology revealed numerous lipid droplets deposited in the fibers. ATPase staining showed predominant atrophy of type- fibers and relative increasing of the portion of type- fibers. Modified Gomori trichrome (MGT) staining did not observe ragged red fibers. Immunohistochemical staining showed positive expression of dystrophin. Sultan - staining revealed multiple vacuolated myofibers. ETFDH gene test showed two heterozygous mutations in the patient. After treating with levocarnitine for several years, the patient could live a normal life. The muscular pathological result returned to normal. Conclusions After appropriate therapy, patient with lipid storage myopathy can not only gain complete remission clinically, but also the reversion of lesion pathologically. [ABSTRACT FROM AUTHOR]