SEPN1: Associated with congenital fiber‐type disproportion and insulin resistance

SEPN1: Associated with congenital fiber‐type disproportion and insulin resistance

Source :

• Annals of Neurology [ 0364-5134 ] ; 2006-03.

English descriptors

• KwdEn :
  • Abnormality, Activity levels, Ambulant, Atpase stains, Base pair fragment, Biopsy, Blood samples, Body mass index, Bone density, Cftd, Cftd patients, Cftd study, Clinical clues, Clinical features, Clinical phenotype, Cohort, Congenital, Congenital disproportion, Congenital myopathy, Desminrelated myopathy, Diagnostic guidelines, Different sepn1 mutations, Disproportion, Dystrophic features, Electron microscopy, Entire coding sequence, Family trees, Fiber diameter, Glucose, Glucose dose, Glucose load, Glucose metabolism, Glucose tolerance testing, Glucose tolerance tests, Healthy parents, Histological, Homozygous cftd, Homozygous unbiopsied, Insulin, Insulin levels, Insulin peak, Insulin receptor gene, Insulin resistance, Insulin sensitivity, Inverse relationship, Main histological abnormality, Many cases, Mild hirsutism, Multiminicore disease, Muscle biopsies, Muscle biopsy, Muscle disease, Muscle fibers, Muscular dystrophy, Mutation, Myopathy, Myopathy patients, Neck weakness, Neurology, Other cftd patients, Peak insulin levels, Phenotype, Poor head control, Progressive scoliosis, Rare form, Reference range, Relative hypotrophy, Respiratory muscle weakness, Rigid spine, Rsmd1, Scoliosis, Selenoprotein, Sepn1, Sepn1 gene, Sepn1 gene mutations, Sepn1 mutation, Sepn1 mutations, Skeletal muscle, Slow twitch, Spinal rigidity, Standard techniques, Truncal hypotonia, Upper limit, Upper limits, Western blot.
• Teeft :
  • Abnormality, Activity levels, Ambulant, Atpase stains, Base pair fragment, Biopsy, Blood samples, Body mass index, Bone density, Cftd, Cftd patients, Cftd study, Clinical clues, Clinical features, Clinical phenotype, Cohort, Congenital, Congenital disproportion, Congenital myopathy, Desminrelated myopathy, Diagnostic guidelines, Different sepn1 mutations, Disproportion, Dystrophic features, Electron microscopy, Entire coding sequence, Family trees, Fiber diameter, Glucose, Glucose dose, Glucose load, Glucose metabolism, Glucose tolerance testing, Glucose tolerance tests, Healthy parents, Histological, Homozygous cftd, Homozygous unbiopsied, Insulin, Insulin levels, Insulin peak, Insulin receptor gene, Insulin resistance, Insulin sensitivity, Inverse relationship, Main histological abnormality, Many cases, Mild hirsutism, Multiminicore disease, Muscle biopsies, Muscle biopsy, Muscle disease, Muscle fibers, Muscular dystrophy, Mutation, Myopathy, Myopathy patients, Neck weakness, Neurology, Other cftd patients, Peak insulin levels, Phenotype, Poor head control, Progressive scoliosis, Rare form, Reference range, Relative hypotrophy, Respiratory muscle weakness, Rigid spine, Rsmd1, Scoliosis, Selenoprotein, Sepn1, Sepn1 gene, Sepn1 gene mutations, Sepn1 mutation, Sepn1 mutations, Skeletal muscle, Slow twitch, Spinal rigidity, Standard techniques, Truncal hypotonia, Upper limit, Upper limits, Western blot.

Abstract

• https://api.istex.fr/document/BB957079C5102318712D56E6CC10E28C18BC6CAA/fulltext/pdf

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