Charcot-Marie-Tooth disease and pathways to molecular based therapies

Clinical Genetics

Volumn 86, Issue 5, 2014, Pages 422-431

  Harel, T ^a   Lupski, J R ^a,b  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

Axonal dysfunction; Charcot Marie Tooth; CMT1A duplication; Schwann cell dynamics; Symmetric distal polyneuropathy; Whole exome sequencing

Indexed keywords

ANIMAL; CHARCOT-MARIE-TOOTH DISEASE; CLASSIFICATION; GENETIC SCREENING; HUMAN; MOLECULAR DIAGNOSIS; MOLECULARLY TARGETED THERAPY; PATHOLOGY; PHENOTYPE;

ANIMALS; CHARCOT-MARIE-TOOTH DISEASE; GENETIC TESTING; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; MOLECULAR TARGETED THERAPY; PHENOTYPE;

EID: 84911474302     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12393     Document Type: Review

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