Congenital hypomyelinating neuropathy due to a novel MPZ mutation

Journal of the Peripheral Nervous System

Volumn 16, Issue 4, 2011, Pages 347-352

  Sevilla, Teresa ^a,b   Lupo, Vincenzo ^b   Sivera, Rafael ^a,b   Marco Marín, Clara ^b,c   Martínez Rubio, Dolores ^b,c   Rivas, Eloy ^d   Hernández, Arturo ^e   Palau, Francesc ^b,c   Espinõs, Carmen ^b  

^a HOSPITAL UNIVERSITARIO LA FE   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED SOBRE ENFERMEDADES NEURODEGENERATIVAS CIBERNED   (Spain)

^c CSIC   (Spain)

^d HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^e HOSPITAL UNIVERSITARIO PUERTA DEL MAR   (Spain)

Author keywords

Charcot Marie Tooth; congenital hypomyelinating neuropathy; D j rine Sottas syndrome; MPZ gene; nerve biopsy

Indexed keywords

PHENYLALANINE; SERINE;

ARTICLE; CONGENITAL HYPOMYELINATING NEUROPATHY; CONTROLLED STUDY; CYTOSOL; GENE; HUMAN; HUMAN TISSUE; MISSENSE MUTATION; MPZ GENE; MYELINATED NERVE; NERVE BIOPSY; NERVE CONDUCTION; NERVE FIBER; NEUROPATHY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SURAL NERVE;

CHARCOT-MARIE-TOOTH DISEASE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; HUMANS; MALE; MUTATION, MISSENSE; MYELIN P0 PROTEIN;

EID: 83755184152     PISSN: 10859489     EISSN: 15298027     Source Type: Journal    
DOI: 10.1111/j.1529-8027.2011.00369.x     Document Type: Article

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