Synonyms: MmD, Multi-minicore disease, Minicore myopathy, Multicore myopathy, Multiminicore myopathy, Minicore myopathy with hand involvement, antenatal onset minicore myopathy with arthrogryposis, Minicore myopathy with external ophthalmoplegia, Multicore myopathy with external ophthalmoplegia, Multiminicore disease with external opthalmoplegia, SEPN1-related congenital muscular dystrophy, rig...

hereditary inclusion body myopathy (hibm) is an adult-onset hereditary myopathy, usually with distal onset and quadriceps sparing. this myopathy is autosomal recessive and associated to upd-n-acetylglucosamine-2-epimerase/n-acetylmannosamine kinase (gne) gene mutations. in this study, we report a novel gne homozygous point mutation c.1834t>g that results in amino acid substitution of cysteine 6...

From 1990-2001, we made 188 successful captures of 166 different greater sandhill cranes (Grus canadensis tabida) through experimental use of alpha-chloralose (AC). Most captures took place during September (72.3%; n = 136), followed by August (14.9%; n = 28), and October (12.8%; n = 24). Territorial pairs were captured more successfully than family groups. Overall morbidity (6.4%) and mortalit...

Background: Neural cell adhesion molecule (N-CAM), or CD56, is a cell-surface glycoprotein that plays critical role in mediating intercellular the central nervous system. It also found to be expressed on embryonic muscle but disappears healthy adult muscle. However, denervated regenerating muscles can express N-CAM. Objective: To evaluate value of N-CAM expressions diagnosing diseases Thai popu...

Blood and cloacal swabs were collected from 100 (66 female, 34 male) wild Tundra Swans (Cygnus columbianus) molting in northwestern Alaska, USA, 25-28 July 2008, to establish hematologic and serum chemistry reference values and to isolate enteric Salmonella spp. and Escherichia coli O157:H7. Plasma biochemistry and hematology values did not vary significantly by sex or age. Tundra swans had hig...

the use of manometry, i.e. the recording of pressures within hollow viscera, after being successfully applied to the study of esophageal and anorectal motor dysfunctions, has also been used to investigate physiological and pathological conditions of the small bowel. by means of this technique, it has been possible to understand better the normal motor functions of the small intestine, and their...

BACKGROUND Distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy is clinically characterized by the early involvement of distal leg muscles. The striking pathological features of the myopathy are muscle fibers with rimmed vacuoles. To date, the role of aquaporin-4 water channel in distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy has not been studied. C...

Bckground: Myositis has been reported to be associated or triggered by viruses. Genetic and environmental factors are documented risk for myopathies. Viruses have also shown modify the clinical course of auto-immune diseases.We therefore report a case SARS-Cov-2 infection in 26-year-old female black Zambian patient with proximal myopathy.
 Case Presentation: We present 26-yearold chemical ...