Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy
Mutations in the gene for the ganglioside-induced differentiation-associated protein-1 (GDAP1) on 8q21 recently were reported to cause autosomal recessive Charcot-Marie-Tooth (CMT) sensorimotor neuropathy. Neurophysiology and nerve pathology were heterogeneous in these cases: a subset of GDAP1 mutat...
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| Κύριος συγγραφέας: | |
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| Μορφή: | Artigo |
| Γλώσσα: | Αγγλικά |
| Έκδοση: |
2003
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| Διαθέσιμο Online: | https://doi.org/10.1093/brain/awg068 https://academic.oup.com/brain/article-pdf/126/3/642/915240/awg068.pdf |
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