Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion

Journal of the Peripheral Nervous System

Volumn 17, Issue 2, 2012, Pages 223-225

  Voermans, Nicol C ^a   Kleefstra, Tjitske ^a   Gabreëls Festen, Anneke A ^a   Faas, Brigitte H W ^a   Kamsteeg, Erik Jan ^a   Houlden, Henry ^b   Laurá, Matilde ^b   Polke, James M ^b   Pandraud, Amelie ^b   Van Ruissen, Fred ^c   Van Engelen, Baziel G ^a   Reilly, Mary M ^b  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

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

^c ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

PERIPHERAL MYELIN PROTEIN 22; RAD18 PROTEIN;

ADULT; AIR CONDITIONING; AREFLEXIA; ARM WEAKNESS; ASPIRATION PNEUMONIA; ATAXIA; BREECH PRESENTATION; CASE REPORT; CESAREAN SECTION; CHROMOSOME 3Q; CHROMOSOME DELETION; CRANIOFACIAL SYNOSTOSIS; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; DISLOCATION; DNA MICROARRAY; DYSARTHRIA; DYSPHAGIA; ELECTROPHYSIOLOGY; EXOPHTHALMOS; FEMALE; FEMUR FRACTURE; GENETIC ANALYSIS; GROWTH RETARDATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HETEROZYGOTE; HIP DYSPLASIA; HISTOPATHOLOGY; HUMAN; HUMERUS FRACTURE; HYPERTELORISM; LETTER; LIMB WEAKNESS; MASTICATION; MOTOR NERVE CONDUCTION; NERVE BIOPSY; NERVE DEGENERATION; NEUROLOGIC EXAMINATION; NEUROPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; POINT MUTATION; PRIORITY JOURNAL; PROPRIOCEPTION; PSYCHOMOTOR DEVELOPMENT; RECURRENT DISEASE; REMYELINIZATION; RESPIRATORY FAILURE; SENSORY NERVE CONDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; SURAL NERVE; TIBIA FRACTURE; TRACHEOSTOMY; VIBRATION SENSE; WALKING AID; WALKING DIFFICULTY; WHEELCHAIR; WHISTLEBLOWING;

ABNORMALITIES, MULTIPLE; CHROMOSOMES, HUMAN, PAIR 3; FEMALE; GENE DELETION; HEREDITARY SENSORY AND MOTOR NEUROPATHY; HUMANS; MYELIN PROTEINS; POINT MUTATION; RESPIRATORY INSUFFICIENCY; YOUNG ADULT;

EID: 84863493845     PISSN: 10859489     EISSN: 15298027     Source Type: Journal    
DOI: 10.1111/j.1529-8027.2012.00402.x     Document Type: Letter

References (7)

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