| Title | Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies. |
|---|---|
| Authors | Silander K, Meretoja P, Juvonen V, Ignatius J, Pihko H, Saarinen A, Wallden T, Herrgard E, Aula P, Savontaus ML |
| Reference | Hum Mutat 12: 59-69, 1998 (PubMed ID: 9633821 ) |
| PMP22: (Phe84del) MPZ (P0): (Ser78Leu) (Tyr82Cys) GJB1 (Cx32): ([Arg22Gln;Val63Ile]) (Pro58Arg) (Pro172Leu) (Asn175Asp) (Leu204Phe) | |
| Mutations |
