Article
Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy.
Neurology - 3 Feb 2015
Schottmann Gudrun, Jungbluth Heinz, Schara Ulrike, Knierim Ellen, Morales Gonzalez Susanne, Gill Esther, Seifert Franziska, Norwood Fiona, Deshpande Charu, von Au Katja, Schuelke Markus, Senderek Jan
Abstract excerpt
OBJECTIVE: To identify the cause of sensorimotor neuropathy in a cohort of patients with genetically unsolved neuropathies (57 families with a total of 74 members) in whom hitherto known disease genes had been excluded. METHODS: We used autozygosity mapping or haplotype analysis to delineate potential disease loci in informative families. For mutation detection, we used either whole-exome sequencing or Sanger...
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