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A novel autosomal recessive lipodystrophy syndrome due to homozygous LMNA variant.

Nivedita PatniSarah HatabChao XingZhengyang ZhouClaudia QuittnerAbhimanyu Garg
Published in: Journal of medical genetics (2019)
Our report of this unusual familial generalised lipodystrophy syndrome adds to the pleiotropy associated with biallelic autosomal recessive LMNA variants.
Keyphrases
  • muscular dystrophy
  • intellectual disability
  • case report
  • copy number
  • gene expression
  • duchenne muscular dystrophy