Diagnostic strategy for familial and sporadic cases of neuropathy associated with 17p11.2 deletion

Muscle and Nerve

Volumn 24, Issue 9, 2001, Pages 1149-1155

  Infante, Jon ^a   García, Antonio ^a   Combarros, Onofre ^b,d   Mateo, José I ^c   Berciano, José ^a   Sedano, María J ^a   Gutiérrez Rivas, Eduardo J ^b   Palau, Francesc ^a  

^a HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^b HOSPITAL UNIVERSITARIO DE BURGOS   (Spain)

^c HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^d INSTITUTO DE BIOMEDICINA DE VALENCIA   (Spain)

Author keywords

Chromosome 17p11.2 deletion; De novo mutation; Electrodiagnosis; Hereditary neuropathy with liability to pressure palsies; Sporadic cases

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CHROMOSOME 17P; CHROMOSOME DELETION; CLINICAL ARTICLE; DIAGNOSTIC ACCURACY; ELECTROPHYSIOLOGY; HUMAN; NEUROPATHY; PRIORITY JOURNAL; SCHOOL CHILD;

ADULT; AGED; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHROMOSOMES, HUMAN, PAIR 17; FAMILY HEALTH; FEMALE; GENE DELETION; HUMANS; MALE; MEDIAN NERVE; MIDDLE AGED; NEURAL CONDUCTION; PARALYSIS; PEDIGREE; PERONEAL NERVE; SURAL NERVE; ULNAR NERVE;

EID: 0034887202     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/mus.1126     Document Type: Article

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