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IGHMBP2 mutation associated with organ-specific autonomic dysfunction
Biallelic mutations in the IGHMBP2 have been associated with two distinct phenotypes: spinal muscular atrophy with respiratory distress type 1 (SMARD1) and CMT2S. We describe a patient who developed progressive muscle weakness and wasting in her upper and lower limbs from infancy. She developed resp...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Pergamon Press
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6302219/ https://www.ncbi.nlm.nih.gov/pubmed/30385095 http://dx.doi.org/10.1016/j.nmd.2018.08.010 |