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Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy
OBJECTIVE: To identify the cause of isolated distal weakness in a family with both neuropathic and myopathic features on EMG and muscle histology. METHODS: Case study with exome sequencing in 2 affected individuals, bioinformatic prioritization of genetic variants, and segregation analysis of the li...
Shranjeno v:
| izdano v: | Neurol Genet |
|---|---|
| Main Authors: | , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Wolters Kluwer
2016
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5089436/ https://ncbi.nlm.nih.gov/pubmed/27830184 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000110 |
| Oznake: |
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