The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype

Brain

Volumn 122, Issue 2, 1999, Pages 281-290

  De Jonghe, Peter ^a,b,c   Timmerman, V ^a   Ceuterick, C ^c   Nelis, E ^a   De Vriendt, E ^a   Lofgren A ^a   Vercruyssen, A ^d   Verellen, C ^e   Van Maldergem, L ^f   Martin, J J ^b,c   Van Broeckhoven, C ^a  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d Division of Neurology   (Belgium)

^e UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

^f INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

Author keywords

Charcot Marie Tooth disease; Hereditary motor and sensory neuropathies; Myelin protein zero

Indexed keywords

MYELIN PROTEIN;

ARTICLE; CLINICAL ARTICLE; FEMALE; GENE MUTATION; HEARING IMPAIRMENT; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITY; HUMAN; MALE; MEDIAN NERVE; MISSENSE MUTATION; NERVE BIOPSY; NERVE CONDUCTION; NERVE FIBER; NERVE FIBER REGENERATION; PHENOTYPE; PRIORITY JOURNAL; PUPIL DISEASE; REMYELINIZATION; SURAL NERVE;

AGED; BIOPSY; CHARCOT-MARIE-TOOTH DISEASE; DNA MUTATIONAL ANALYSIS; ELECTROMYOGRAPHY; FAMILY HEALTH; FEMALE; HAPLOTYPES; HUMANS; MALE; MEDIAN NERVE; METHIONINE; MOTOR NEURONS; MYELIN P0 PROTEIN; NEURONS, AFFERENT; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SURAL NERVE; THREONINE; ULNAR NERVE;

EID: 0032949034     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/122.2.281     Document Type: Article

References (29)

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