Limb-girdle muscular dystrophies.

The congenital and limb-girdle muscular dystrophies: sharpening the focus, blurring the boundaries.

During the past decade, outstanding progress in the areas of congenital and limb-girdle muscular dystrophies has led to staggering clinical and genetic complexity. With the identification of an increasing number of genetic defects, individual entities have come into sharper focus and new pathogenic mechanisms for muscular dystrophies, like defects of posttranslational O-linked glycosylation, ha...

A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.

The limb girdle muscular dystrophies are a heterogeneous group of conditions characterized by proximal muscle weakness and disease onset ranging from infancy to adulthood. We report here eight patients from seven unrelated families affected by a novel and relatively mild form of autosomal recessive limb girdle muscular dystrophy (LGMD2) with onset in the first decade of life and characterized b...

Anaesthetic Management of a Child with Limb-Girdle Muscular Dystrophy.

Limb-girdle muscular dystrophies are a group of disorders with wide genetic and clinical heterogeneity. These disorders may lead to an increase in life-threatening complications related to surgery and anaesthesia. In this case, the anaesthetic management of a child with limb-girdle muscular dystrophy is presented.

Report of ENMC workshop on the limb-girdle muscular dystrophies.

EFNS guideline on diagnosis and management of limb girdle muscular dystrophies.

The limb girdle muscular dystrophies (LGMD) are termed as such as they share the characteristic feature of muscle weakness predominantly affecting the shoulder and pelvic girdles; their classification has been completely revised in recent years because of elucidation of many of the underlying genetic and protein alterations in the various subtypes. An array of diagnostic measures is possible bu...

Electron microscopic findings of cardiomyopathy with limb girdle muscular dystrophy.

Cardiac involvement in limb girdle muscular dystrophy has considered to be rare. This is the first report showing the electron microscopic findings of dilated cardiomyopathy (DCM) accompanied with limb girdle muscular dystrophy. The findings described in this report indicate that limb girdle muscular dystrophy may be yet another cause of DCM.