IPN Mutations
Reference
| Title |
Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. |
| Authors |
Warner LE, Hilz MJ, Appel SH, Killian JM, Kolodry EH, Karpati G, Carpenter S, Watters GV, Wheeler C, Witt D, Bodell A, Nelis E, Van Broeckhoven C, Lupski JR |
| Reference |
Neuron 17: 451-460, 1996
(PubMed ID:
8816708
)
|
|
MPZ (P0):
(Arg98Ser)
(Arg98Cys)
(Val102fs)
(Leu174fs)
(Gln215X)
|
|
Mutations
|
Reference
| Title |
Congenital hypomyelination due to myelin protein zero Q215X mutation. |
| Authors |
Mandich P, Mancardi GL, Varese A, Soriani S, Di Maria E, Bellone E, Bado M, Gross L, Windebank AJ, Ajmar F, Schenone A |
| Reference |
Ann Neurol 45: 676-678, 1999
(PubMed ID:
10319895
)
|
|
MPZ (P0):
(Gln215X)
|
|
Mutations
|
