Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease

Neuromuscular Disorders

Volumn 25, Issue 10, 2015, Pages 786-793

  Brennan, Kathryn M ^a   Bai, Yunhong ^a   Pisciotta, Chiara ^a   Wang, Suola ^a   Feely, Shawna M E ^a   Hoegger, Mark ^a   Gutmann, Laurie ^a   Moore, Steven A ^a   Gonzalez, Michael ^b   Sherman, Diane L ^c   Brophy, Peter J ^c   Züchner, Stephan ^b   Shy, Michael E ^a  

^a UNIVERSITY OF IOWA   (United States)

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

^c UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

Charcot Marie Tooth disease; Hereditary motor and sensory neuropathy; Myelin; Nerve conduction studies; Whole exome sequencing

Indexed keywords

ALPHA DYSTROGLYCAN; BETA DYSTROGLYCAN; DYSTROPHIN RELATED PROTEIN 2; IMMUNOGLOBULIN; STEROID; TUBULIN; UNCLASSIFIED DRUG; UTROPHIN; CYTOSKELETON PROTEIN; DAG1 PROTEIN, HUMAN; DYSTROGLYCAN; DYSTROPHIN-RELATED PROTEIN 2; MEMBRANE PROTEIN; MUSCLE PROTEIN; UBIQUITIN THIOLESTERASE; UCHL1 PROTEIN, HUMAN;

ADULT; ARTICLE; BRACHIAL PLEXUS NEUROPATHY; CAJAL BAND; CASE REPORT; CELL STRUCTURE; CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY; ELECTROMYOGRAPHY; ELECTRON MICROSCOPY; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; MALE; MIDDLE AGED; MUSCLE ATROPHY; MUSCLE WEAKNESS; MYELINATED NERVE; NERVE CONDUCTION DISORDER; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SCHWANN CELL; SKIN BIOPSY; SKIN NERVE; DERMIS; EXOME; GENETICS; INNERVATION; METABOLISM; MYELIN SHEATH; NERVE CONDUCTION; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; ULTRASTRUCTURE;

CHARCOT-MARIE-TOOTH DISEASE; CYTOSKELETAL PROTEINS; DERMIS; DYSTROGLYCANS; EXOME; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUSCLE PROTEINS; MYELIN SHEATH; NEURAL CONDUCTION; PEDIGREE; UBIQUITIN THIOLESTERASE;

EID: 84941731576     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2015.07.001     Document Type: Article

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