Mutations in the mitochondrial or nuclear genomes are associated with a diverse group of
human disorders characterized by impaired mitochondrial respiration. Within this group, an …

Background and Purpose Studies of cases of Duchenne muscular dystrophy (DMD) and
Becker muscular dystrophy (BMD) confirmed by multiplex ligation-dependent probe …

The purpose of this study was to describe the pattern of muscle involvement using MRI findings
and correlate with functional as well as muscle strength measurements. Fifty genetically …

Complex mechanisms are required to form neuromuscular synapses, direct their
subsequent maturation, and maintain the synapse throughout life. Transcriptional and post-translational …

Introduction Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative
disease affecting cortical and spinal motor neurons. There is a lack of optimal biomarkers to …

Background Cerebrospinal fluid from amyotrophic lateral sclerosis patients (ALS-CSF)
induces neurodegenerative changes in motor neurons and gliosis in sporadic ALS models. …

Resistance to anti-leprosy drugs is on the rise. Several studies have documented resistance
to rifampicin, dapsone, and ofloxacin in patients with leprosy. We looked for point mutations …

Congenital myasthenic syndrome (CMS) is a heterogeneous disorder that causes fatigable
muscle weakness. CMS has been associated with variants in the MuSK gene and, to date, …

Congenital myasthenic syndromes (CMS) are a rare group of inherited disorders caused by
gene defects associated with the neuromuscular junction and potentially treatable with …

Congenital myasthenic syndromes (CMS) are a clinically and genetically heterogeneous
group of disorders caused by mutations which lead to impaired neuromuscular transmission. …