Dictionary > Centronuclear myopathy

Centronuclear myopathy

Centronuclear myopathy
Slowly progressive generalised muscle weakness and atrophy beginning in childhood; on biopsy of skeletal muscle, the nuclei of most muscle fibres are seen to be located near the centre of a small fibre (the normal position for a 10-week embryo) rather than at the periphery of the fibre; familial incidence. Autosomal dominant recessive and x-linked 310400 forms occur.
Synonym: myotubular myopathy.
distal myopathy, myopathy affecting predominantly the distal portions of the limbs; onset is usually after age 40, with weakness and wasting of small muscles of the hands; The infantile form and the swedish later-onset are autosomal dominant and there is a Japanese late-onset type that is recessive.
Minicore-multicore myopathy, an uncommon nonprogressive myopathy with early onset, proximal weakness, and hypotonia. Muscle fibres show focal defects of oxidative and myofibrillar adenosine triphosphatase enzymes with disorganization of myofibril ultrastructure.
mitochondrial myopathy, weakness and hypotonia of muscles, primarily those of the neck, shoulder, and pelvic girdles, with onset in infancy or chil
604
dhood; on biopsy, giant, bizarre mitochondria are seen located between muscle fibrils just beneath the sarcolemma. The dominant form is due to deletion of mitochondrial dna and the recessive form is due to a complex deficiency.


You will also like...

Thermographic image of face and neck
Regulation of Organic Metabolism, Growth and Energy Balance

The human body is capable of regulating growth and energy balance through various feedback mechanisms. Get to know the e..

Homeostatic Mechanisms and Cellular Communication
Homeostatic Mechanisms and Cellular Communication

Homeostasis is the relatively stable conditions of the internal environment that result from compensatory regulatory res..

Electromagnetic spectrum of a brain
Sleep and Dreams – Neurology

While learning and intelligence are associated with the functions of a conscious mind, sleep and dreams are activities o..

An artist's depiction of the origin of amphibians
Amphibians & Early Reptiles

Obtaining air outside an aquatic environment required species to acquire suitable adaptations, and this was the case of ..

Consciousness and behavior
Consciousness and Behavior

Human consciousness and behavior are an interesting topic since they are determined and controlled by the brain. Conscio..

Regulation of Biological Systems
Regulation of Biological Systems

Regulation of Biological Systems tutorials are focused on the modulation of biological systems from cell to population l..