Adhalin gene mutations and autosomal recessive limb‐girdle muscular dystrophy

This publication has 14 references indexed in Scilit:

• Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin
  Annals of Neurology, 1995
• Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency.
  Journal of Clinical Investigation, 1995
• A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy
  Human Molecular Genetics, 1995
• Three muscular dystrophies: Loss of cytoskeleton-extracellular matrix linkage
  Cell, 1995
• Selective Defect of Sarcoglycan Complex in Severe Childhood Autosomal Recessive Muscular Dystrophy Muscle
  Biochemical and Biophysical Research Communications, 1994
• Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
  Cell, 1994
• Dissociation of the complex of dystrophin and its associated proteins into several unique groups by n‐octyl β‐d‐glucoside
  European Journal of Biochemistry, 1994
• Linkage of Tunisian autosomal recessive Duchenne–like muscular dystrophy to the pericentromeric region of chromosome 13q
  Nature Genetics, 1992
• Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy
  Nature, 1992
• Identification of novel proteins unique to either transverse tubules (TS28) or the sarcolemma (SL50) in rabbit skeletal muscle.
  The Journal of cell biology, 1990