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A NOVEL MYELIN PROTEIN ZERO MUTATION ASSOCIATED WITH CHARCOT‐MARIE‐TOOTH TYPE II DISEASE
Author(s) -
Denise Cassandrini,
Piercesare Balestra,
Fiore Manganelli,
Lucia Santoro,
Franco Ajmar,
Paola Mandich,
Emilia Bellone
Publication year - 2002
Publication title -
journal of the peripheral nervous system
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 67
eISSN - 1529-8027
pISSN - 1085-9489
DOI - 10.1046/j.1529-8027.2002.7011_9.x
Subject(s) - proband , pes cavus , peripheral myelin protein 22 , genetics , point mutation , atrophy , pathology , compound heterozygosity , myelin , medicine , biology , anatomy , mutation , gene , gene duplication , central nervous system , complication