A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia

Clinical Neurology and Neurosurgery

Volumn 112, Issue 9, 2010, Pages 794-797

  Luigetti, M ^a   Modoni, A ^a   Renna, R ^a   Silvestri, G ^a   Ricci, E ^a   Montano, N ^a   Tasca, G ^a   Papacci, M ^a   Monforte, M ^a   Conte, A ^a   Pomponi, M G ^a   Sabatelli, M ^a  

^a CATHOLIC UNIVERSITY   (Italy)

Author keywords

Electromyography; HyperCKemia; Inherited neuropathy; MPZ; Sural nerve biopsy

Indexed keywords

CREATINE KINASE; VALINE;

ABNORMALLY HIGH SUBSTRATE CONCENTRATION IN BLOOD; ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; DEMYELINATION; GENE; GENE MUTATION; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITARY MOTOR SENSORY NEUROPATHY 1B; HEREDITARY MOTOR SENSORY NEUROPATHY TYPE 1B; HUMAN; HYPERCKEMIA; MALE; MYELIN PROTEIN ZERO GENE; NERVOUS SYSTEM ELECTROPHYSIOLOGY; NEUROPATHY; PHENOTYPIC VARIATION;

ACTION POTENTIALS; ADULT; AXONS; BIOPSY; CHARCOT-MARIE-TOOTH DISEASE; CODON; CREATINE KINASE; DIAGNOSIS; ELECTROMYOGRAPHY; FAMILY; GENETIC TESTING; HUMANS; MALE; MOTOR NEURONS; MUTATION; MYELIN P0 PROTEIN; NEURAL CONDUCTION; NEUROLOGIC EXAMINATION; PERIPHERAL NERVES; SENSORY RECEPTOR CELLS;

EID: 77957774119     PISSN: 03038467     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clineuro.2010.05.001     Document Type: Article

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