Biopsy in a patient with PMP22 exon 2 mutation recapitulates pathology of Trembler-J mouse

Neuromuscular Disorders

Volumn 23, Issue 4, 2013, Pages 345-348

  Madrid, Ricardo E ^a   Lofgren, Ann ^b,c   Baets, Jonathan ^b,c,d   Timmerman, Vincent ^b,c  

^a NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d ANTWERP UNIVERSITY HOSPITAL   (Belgium)

Author keywords

Congenital hypomyelinating neuropathies; DSD; Genotype phenotype correlations; PMP22

Indexed keywords

ARGININE; LEUCINE; MYELIN; PERIPHERAL MYELIN PROTEIN 22;

ADULT; AMINO ACID SUBSTITUTION; AREFLEXIA; ARTICLE; CASE REPORT; CELL INTERACTION; DEMYELINATION; DENERVATION; DISEASE COURSE; EXON; FEMALE; FLATFOOT; GENE MUTATION; HEARING IMPAIRMENT; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INTERNODE; MUSCLE ATROPHY; NERVE BIOPSY; NERVE FIBER; NERVE FIBER DEGENERATION; NUCLEOTIDE SEQUENCE; PERONEUS MUSCLE; PMP22 GENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REMYELINIZATION; SCHWANN CELL; SCOLIOSIS; SENSORY DYSFUNCTION; SINGLE STRAND CONFORMATION POLYMORPHISM; WALKING DIFFICULTY; WHEELCHAIR;

ADULT; ANIMALS; CHARCOT-MARIE-TOOTH DISEASE; EXONS; FEMALE; HUMANS; MICE; MUTATION, MISSENSE; MYELIN PROTEINS; SURAL NERVE;

EID: 84874981890     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2012.12.005     Document Type: Article

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