Severe phenotype with cis-acting heterozygous PMP22 mutations

Clinical Genetics

Volumn 75, Issue 3, 2009, Pages 286-289

  Niedrist, Dunja ^a   Joncourt, F ^b   Matyas G ^a   Muller A ^c  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b UNIVERSITY OF BERN   (Switzerland)

^c SCHULTHESS CLINIC   (Switzerland)

Author keywords

c.281delG; c.353C.T; CMT; p.G94AfsX17; p.T118M; Paternal origin; PMP22 point mutation

Indexed keywords

CYSTEINE; PERIPHERAL MYELIN PROTEIN 22; THREONINE;

ADULT; ARTICLE; CASE REPORT; DNA DETERMINATION; FOOT MALFORMATION; FRAMESHIFT MUTATION; GAIT DISORDER; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; HAMMER TOE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; KYPHOSCOLIOSIS; MALE; MUSCLE ATROPHY; MUSCLE WEAKNESS; NERVE CONDUCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; PARESIS; PES CAVUS; PHENOTYPE; POLYNEUROPATHY; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SEQUENCE; SCOLIOSIS; SPINE SURGERY;

ADULT; CHARCOT-MARIE-TOOTH DISEASE; DNA MUTATIONAL ANALYSIS; FEMALE; GENE DELETION; HETEROZYGOTE; HUMANS; MALE; MUTATION; MYELIN PROTEINS; PHENOTYPE;

HUMAN HERPESVIRUS 4;

EID: 60549110252     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01120.x     Document Type: Article

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