Axon damage in CMT due to mutation in myelin protein P0

Neuromuscular Disorders

Volumn 11, Issue 8, 2001, Pages 753-756

  Hanemann, C O ^a   Gabreels Festen A A W M ^b   De Jonghe, P ^c  

^a UNIVERSITY OF ULM   (Germany)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF ANTWERP   (Belgium)

Author keywords

Charcot Marie Tooth disease; Myelin protein P0 mutation; Secondary axon damage

Indexed keywords

MYELIN ASSOCIATED GLYCOPROTEIN; MYELIN PROTEIN;

ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DEMYELINATION; ELECTROMYOGRAM; FEMALE; GENE MUTATION; GENETIC DISORDER; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; MORPHOMETRICS; NERVE BIOPSY; NERVE CONDUCTION; NERVE FIBER DEGENERATION; NERVE POTENTIAL; PRIORITY JOURNAL; SURAL NERVE;

ADULT; AMINO ACID SUBSTITUTION; AXONS; BIOPSY; CELL COUNT; CHARCOT-MARIE-TOOTH DISEASE; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; MUTATION; MYELIN P0 PROTEIN; MYELIN SHEATH; MYELIN-ASSOCIATED GLYCOPROTEIN; NEURAL CONDUCTION; SURAL NERVE;

EID: 0034810218     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(01)00229-2     Document Type: Article

References (13)

1. Electrophysiologic features of inherited demyelinating neuropathies: A reappraisal
2. The pathology of charcot-marie-tooth disease and related disorders
3. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype
4. Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene
5. Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: Two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible 'hotspot' on Thr124Met [In Process Citation]
6. Myelin-associated glycoprotein is a myelin signal that modulates the caliber of myelinated axons
7. Molecular genetics and biology of inherited peripheral neuropathies: A fast-moving field
8. Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease
9. Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene
10. Charcot-Marie-Tooth disease type 2 and P0 gene mutations
11. Loss of distal axons and sensory Merkel cells and features indicative of muscle denervation in hindlimbs of P0-deficient mice
12. Distal axonopathy in peripheral nerves of PMP22-mutant mice
13. Formation of compact myelin is required for maturation of the axonal cytoskeleton