期刊： NEUROMUSCULAR DISORDERS, 2021; 31 (5)
Twins with Duchenne muscular dystrophy (DMD) have been widely studied. We report the first rare case of monozygotic triplets with DMD who shared consi......
期刊： NEUROMUSCULAR DISORDERS, 2021; 31 (5)
Reducing body myopathy (RBM) is a rare myopathy characterized by reducing bodies (RBs) in morphological presentation. The clinical manifestations of R......
期刊： NEUROMUSCULAR DISORDERS, 2021; 31 (6)
Both mitochondrial and nuclear gene mutations can cause cytochrome c oxidase (COX, complex.) dysfunction, leading to mitochondrial diseases. Although ......
期刊： NEUROMUSCULAR DISORDERS, 2021; 31 (6)
Spinal muscular atrophy (SMA) is a rare neuromuscular disease, which often occurs in childhood. Early SMA treatment may be highly beneficial to SMA pa......
期刊： NEUROMUSCULAR DISORDERS, 2021; 31 (2)
Charcot-Marie-Tooth disease (CMT) represents a phenotypically and genetically heterogeneous disorder of the peripheral nervous system. Biallelic varia......
期刊： NEUROMUSCULAR DISORDERS, 2020; 30 (2)
FHL1-related myopathies, including reducing body myopathy (RBM), X-linked scapulo-axio-peroneal myopathy, rigid spine syndrome, X-linked myopathy with......
期刊： NEUROMUSCULAR DISORDERS, 2020; 30 (2)
Limb girdle muscular dystrophy LGMD R7 telethonin-related is a rare autosomal recessive muscle disorder characterized by proximal muscle weakness of p......
期刊： NEUROMUSCULAR DISORDERS, 2020; 30 (3)
Spinal muscular atrophy (SMA) is caused by homozygous deletions of the SMN1 gene in approximately 95% of patients. The remaining 5% of patients with S......
期刊： NEUROMUSCULAR DISORDERS, 2020; 30 (7)
A 25-year-old male patient presented with periodic paralysis that increased in severity and frequency with age, accompanied with muscle pain and signi......
期刊： NEUROMUSCULAR DISORDERS, 2020; 30 (7)
Muscle-specific tyrosine kinase antibody (MuSK-Ab) and acetylcholine receptor antibody (AChR-Ab) coexistence in myasthenia gravis (MG) is very rare. I......
