We report a 58-year-old woman (patient 1) and her 60-year-old brother (patient 2) with autosomal dominant

Congenital muscular dystrophies (CMD) are a clinically heterogeneous group of muscular disorders characte

An Italian male aged 50 years with oculopharyngeal muscular dystrophy is reported. Eleven of his relative

A 61 year old patient presented with muscular atrophy and weakness, predominant at the shoulder girdle, a

Two siblings and a first degree cousin of a consanguinous marriage were afflicted with recessive generali

Autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD-AD) is a disorder characterized clinically by

An 8-year-old girl developed weakness over 2 years and an elevated creatine kinase. The biopsy was most c

We report on a 2-yr-old boy with progressive muscular weakness and respiratory failure. There was no clin

A myopathy characterized by restricted involvement of few muscles and inflammatory cell infiltration was

myotonic dystrophy, also called the Curschmann-Steinert syndrome, is an autosomal dominant inherited neur