De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease

Brain

Volumn 139, Issue 6, 2016, Pages 1649-1656

  Motley, William W ^a,b   Palaima, Paulius ^c,d   Yum, Sabrina W ^e   Gonzalez, Michael A ^f   Tao, Feifei ^f   Wanschitz, Julia V ^g   Strickland, Alleene V ^f   Löscher, Wolfgang N ^g   De Vriendt, Els ^c,d   Koppi, Stefan ^h   Medne, Livija ^e   Janecke, Andreas R ^g   Jordanova, Albena ^c,d   Zuchner, Stephan ^f   Scherer, Steven S ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b PENNSYLVANIA HOSPITAL   (United States)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d UNIVERSITY OF ANTWERP   (Belgium)

^e CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^f UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^g INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^h Hospital Rankweil   (Austria)

Author keywords

Charcot Marie Tooth disease; CMT, myelin P2 protein; Peripheral neuropathy; PMP2

Indexed keywords

GENOMIC DNA; PERIPHERAL MYELIN PROTEIN 22; MYELIN BASIC PROTEIN; PMP2 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; AREFLEXIA; ARTICLE; CHARCOT MARIE TOOTH DISEASE TYPE 1; CLINICAL FEATURE; CONTROLLED STUDY; CRYSTAL STRUCTURE; DEMYELINATING NEUROPATHY; DOMINANT INHERITANCE; ELECTROMYOGRAPHY; ELECTRON MICROSCOPY; ELECTRONEUROLOGY; EXOME; EXON; FEMALE; GENE; GENE MAPPING; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; GENETIC VARIATION; GENOME ANALYSIS; HAPLOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN GENOME; HUMAN TISSUE; LIMB WEAKNESS; MAJOR CLINICAL STUDY; MALE; NERVE BIOPSY; NUCLEOTIDE SEQUENCE; PATERNITY TEST; PES EQUINOVARUS; PMP2 GENE; PRIORITY JOURNAL; SEGREGATION ANALYSIS; SEQUENCE ALIGNMENT; SHORT TANDEM REPEAT; SURAL NERVE; VIBRATION SENSE; WALKING DIFFICULTY; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; MUTATION; NERVE CONDUCTION; PEDIGREE; YOUNG ADULT;

ADOLESCENT; CHARCOT-MARIE-TOOTH DISEASE; EXOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; MUTATION; MYELIN P2 PROTEIN; NEURAL CONDUCTION; PEDIGREE; YOUNG ADULT;

EID: 84978828810     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/aww055     Document Type: Article

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