X-Nico

unusual facts about Skeletal muscle



MEG3

The expression profile in mouse of the co-regulated Meg3 and Dlk1 genes suggests a causative role in the pathologies found in uniparental disomy animals, characterized by defects in skeletal muscle maturation, bone formation, placenta size and organization and prenatal lethality.

New Forest pony

DNA sequencing revealed that the affected foal was homozygous for a missense mutation in the gene encoding CLCN1, a protein which regulates the excitability of the skeletal muscle.

Osteopontin

Evidence is accumulating that suggests that osteopontin plays a number of roles in diseases of skeletal muscle, such as Duchenne muscular dystrophy.

Phosphofructokinase deficiency

In this condition, a deficiency of the M subunit (PFKM) of the phosphofructokinase enzyme impairs the ability of cells such as erythrocytes and rhabdomyocytes (skeletal muscle cells) to use carbohydrates (such as glucose) for energy.

Voltage-gated potassium-channel Kv1.4 IRES

This region has been shown to mediate internal ribosome entry in cells derived from brain, heart, and skeletal muscle; tissues known to express mRNA species.


see also

Costamere

They physically couple force-generating sarcomeres with the sarcolemma in striated muscle cells and are thus considered one of several "Achilles' heels" of skeletal muscle, a critical component of striated muscle morphology which, when compromised, is thought to directly contribute to the development of several distinct myopathies.