The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy

Neuromuscular Disorders

Volumn 19, Issue 4, 2009, Pages 264-269

  Houlden, Henry ^a   Laura, Matilde ^a   Ginsberg, Lionel ^b   Jungbluth, Heinz ^c   Robb, Stephanie A ^d   Blake, Julian ^a,e   Robinson, Susan ^f   King, Rosalind H M ^b   Reilly, Mary M ^a  

^a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^b ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^c EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^e NORFOLK AND NORWICH UNIVERSITY HOSPITAL   (United Kingdom)

^f ABERDEEN ROYAL INFIRMARY   (United Kingdom)

Author keywords

Autosomal recessive; Charcot Marie Tooth disease; CMT4C; KIAA1985; SH3TC2

Indexed keywords

AZATHIOPRINE; IMMUNOGLOBULIN; METHOTREXATE; PREDNISOLONE; TETRATRICOPEPTIDE REPEAT PROTEIN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BASEMENT MEMBRANE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DEMYELINATING DISEASE; DEMYELINATING NEUROPATHY; FAMILY ASSESSMENT; GENE; GENE MAPPING; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; NERVE BIOPSY; NEUROPATHOLOGY; PERIPHERAL NERVE; PRIORITY JOURNAL; RESPIRATORY SYSTEM; SCHWANN CELL; SH3TC2 GENE; ULCERATIVE COLITIS;

ADULT; AGE OF ONSET; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHROMOSOME DISORDERS; CRANIAL NERVE DISEASES; DNA MUTATIONAL ANALYSIS; FEMALE; FOOT DEFORMITIES, CONGENITAL; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; HUMANS; INFLAMMATION; MALE; MUTATION; NERVE FIBERS, MYELINATED; PHENOTYPE; PROTEINS; RESPIRATORY INSUFFICIENCY; SCOLIOSIS; SURAL NERVE;

EID: 63749100101     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2009.01.006     Document Type: Article

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