An early onset muscular dystrophy with diaphragmatic involvement, early respiratory failure and secondary α2 laminin deficiency unlinked to the LAMA2 locus on 6q22

This publication has 13 references indexed in Scilit:

• Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy.
  Journal of Medical Genetics, 1997
• Merosin‐negative congenital muscular dystrophy associated with extensive brain abnormalities
  Neurology, 1995
• Mutations in the laminin α2–chain gene (LAMA2) cause merosin–deficient congenital muscular dystrophy
  Nature Genetics, 1995
• Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal
  Neuromuscular Disorders, 1995
• Three muscular dystrophies: Loss of cytoskeleton-extracellular matrix linkage
  Cell, 1995
• Somatosensory and Visual Evoked Potentials in Congenital Muscular Dystrophy: Correlation with MRI Changes and Muscle Merosin Status
  Neuropediatrics, 1995
• Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping
  Human Molecular Genetics, 1994
• Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31–33
  Nature Genetics, 1993
• Abnormal localization of laminin subunits in muscular dystrophies
  Journal of the Neurological Sciences, 1993
• Severe childhood muscular dystrophy affecting both sexes and frequent in tunisia
  Muscle & Nerve, 1983