Charcot-Marie-Tooth disease: Genetic and clinical spectrum in a Spanish clinical series

Neurology

Volumn 81, Issue 18, 2013, Pages 1617-1625

  Sivera, Rafael ^a   Sevilla, Teresa ^a,b,c   Vílchez, Juan Jesús ^a,b,c   Martínez Rubio, Dolores ^d,e   Chumillas, María José ^a,b   Vázquez, Juan Francisco ^a   Muelas, Nuria ^a,b   Bataller, Luis ^a,b   Millán, José María ^a,e   Palau, Fancesc ^d,e,f   Espinós, Carmen ^c,d,e  

^a HOSPITAL UNIVERSITARIO LA FE   (Spain)

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

^c UNIVERSITY OF VALENCIA   (Spain)

^d CENTRO DE INVESTIGACIÓN PRÍNCIPE FELIPE   (Spain)

^e CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^f UNIVERSITY OF CASTILLA LA MANCHA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

GANGLIOSIDE INDUCED DIFFERENTIATION ASSOCIATED PROTEIN 1; GJB1 PROTEIN; PERIPHERAL MYELIN PROTEIN 22; PROTEIN; UNCLASSIFIED DRUG; CONNEXIN 32; GAP JUNCTION PROTEIN; GDAP PROTEIN; MYELIN PROTEIN; NERVE PROTEIN; PMP22 PROTEIN, HUMAN;

ADULT; ARTICLE; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DEMYELINATING DISEASE; DESCRIPTIVE RESEARCH; GENE DUPLICATION; GENE IDENTIFICATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; GEOGRAPHIC DISTRIBUTION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LONGITUDINAL STUDY; MAJOR CLINICAL STUDY; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SCHOOL CHILD; CHARCOT-MARIE-TOOTH DISEASE; COMPLICATION; FEMALE; FOOT DEFORMITIES; GENETICS; MALE; MUSCLE STRENGTH; MUSCULAR ATROPHY; MUTATION; NUCLEOTIDE SEQUENCE; PHYSIOLOGY; RETROSPECTIVE STUDY; SENSATION DISORDERS; SPAIN;

CHARCOT-MARIE-TOOTH DISEASE; CONNEXINS; DNA MUTATIONAL ANALYSIS; FEMALE; FOOT DEFORMITIES; HUMANS; LONGITUDINAL STUDIES; MALE; MUSCLE STRENGTH; MUSCULAR ATROPHY; MUTATION; MYELIN PROTEINS; NERVE TISSUE PROTEINS; RETROSPECTIVE STUDIES; SENSATION DISORDERS; SPAIN;

EID: 84888264703     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3182a9f56a     Document Type: Article

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