Browsing Category

Neuromuscular Disorders

Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNAPro)…

Mitochondrial diseases are a group of inherited, metabolic disorders with heterogeneous, systemic or organ-specific symptoms, often showing poor phenotype–genotype correlation. As a direct consequence, the presence of heterogeneous clinical…

Clinical features of inherited neuropathy with BSCL2 mutations in Japan

Abstract Heterozygous mutations in the Berardinelli–Seip congenital lipodystrophy 2 (BSCL2) gene have been reported with different clinical phenotypes including Silver syndrome (SS)/spastic paraplegia 17 (SPG17), distal hereditary motor…