Early presentation of X-linked Emery–Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy

This publication has 16 references indexed in Scilit:

• Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leucocytes and skin with monoclonal antibodies
  Neuromuscular Disorders, 1997
• Towards the classification of the autosomal recessive limb-girdle muscular dystrophies
  Neuromuscular Disorders, 1996
• Autosomal recessive limbgirdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ–sarcoglycan gene
  Nature Genetics, 1996
• The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein
  Human Molecular Genetics, 1996
• Emerin deficiency at the nuclear membrane in patients with Emery-Dreif uss muscular dystrophy
  Nature Genetics, 1996
• SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function
  Human Molecular Genetics, 1995
• Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
  Cell, 1995
• Three muscular dystrophies: Loss of cytoskeleton-extracellular matrix linkage
  Cell, 1995
• Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
  Nature Genetics, 1994
• Emery-Dreifuss Muscular Dystrophy: Disease Spectrum and Differential Diagnosis
  Neuropediatrics, 1988