Article
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.
Neuromuscular disorders : NMD - 1 Sept 2016
Pedurupillay Christeen Ramane J, Amundsen Silja S, Barøy Tuva, Rasmussen Magnhild, Blomhoff Anne, Stadheim Barbro Fossøy, Ørstavik Kristin, Holmgren Asbjørn, Iqbal Tahir, Frengen Eirik, Misceo Doriana, Strømme Petter
Abstract excerpt
Biallelic mutations in IGHMBP2 cause spinal muscular atrophy with respiratory distress type 1 (SMARD1) or Charcot-Marie-Tooth type 2S (CMT2S). We report three families variably affected by IGHMBP2 mutations. Patient 1, an 8-year-old boy with two homozygous variants: c.2T>C and c.861C>G, was wheelchair bound due to sensorimotor axonal neuropathy and chronic respiratory failure. Patient 2 and his younger sister,...
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