An unusual presentation of Muscle–Eye–Brain disease: Severe eye abnormalities with mild muscle and brain involvement

This publication has 10 references indexed in Scilit:

• A Comparative Study of α‐Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α‐Dystroglycan Does Not Consistently Correlate with Clinical Severity
  Brain Pathology, 2009
• Novel POMGnT1 mutations define broader phenotypic spectrum of muscle–eye–brain disease
  neurogenetics, 2007
• Lissencephaly type II
  Handbook of Clinical Neurology, 2007
• Prenatal diagnosis of muscle‐eye‐brain disease
  Prenatal Diagnosis, 2006
• POMGnT1 Mutations in Congenital Muscular Dystrophy
  Archives of Neurology, 2006
• Carriers and patients with muscle–eye–brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts
  Neuromuscular Disorders, 2006
• The congenital muscular dystrophies in 2004: a century of exciting progress
  Neuromuscular Disorders, 2004
• 114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17–19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE)
  Neuromuscular Disorders, 2003
• Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease
  Human Molecular Genetics, 2003
• Clinical and genetic distinction between Walker–Warburg syndrome and muscle–eye–brain disease
  Neurology, 2001