A 46-year-old woman with exertional myalgia developed slowly progressive weakness in her lower extremitie

A 67 year-old woman visited our hospital complaining of pollakisuria. She had undergone left nephrectomy

We describe a 42-year-old man who presented with a progressive history of epilepsy, stroke-like episodes,

We describe clinical and genetic data from the study of two families with 80 members affected with the au

The "rigid spine syndrome" is a rare form of myopathy characterised by rigidity of the dorso-lumbar spine

A child is reported with Behcet's disease who presented with skin and joint manifestations, oral ulcers,

Skeletal muscle obtained from a patient with distal myopathy with rimmed vacuole formation (DMRV) was exa

Two females mother and daughter, were affected by a neuromuscular disorder, characterized by slow progres

A single report of brothers born to first-cousin parents with a form of acute spinal muscular atrophy (SM

We describe two cases of infantile neuroaxonal dystrophy, which is a rare, neurodegenerative disease, wit