Hereditary Inclusion Body Myopathy (HIBM) is a homozygous recessive disorder characterized by the M712T mutation. Humans who inherit this disorder develop skeletal muscle wasting, which is largely attributed to a sialic acid deficiency. In order to de . . .

Hereditary inclusion body myopathy (HIBM) is a genetic neuromuscular disorder characterized by progressive muscle wasting and weakness. HIBM is caused by mutations in the GNE gene which encodes the bifunctional enzyme uridine diphosphospho-N-acetylglu . . .

Hereditary Inclusion Body Myopathy (HIBM) is a homozygous recessive disorder characterized by the M712T mutation. Humans who inherit this disorder develop skeletal muscle wasting, which is largely attributed to a sialic acid deficiency. In order to de . . .