BAG3 mutations: Another cause of giant axonal neuropathy

Journal of the Peripheral Nervous System

Volumn 17, Issue 2, 2012, Pages 210-216

  Jaffer, Fatima ^a   Murphy, Sinéad M ^a,b   Scoto, Mariacristina ^c   Healy, Estelle ^d   Rossor, Alexander M ^a   Brandner, Sebastian ^d   Phadke, Rahul ^d   Selcen, Duygu ^e   Jungbluth, Heinz ^f,g   Muntoni, Francesco ^c   Reilly, Mary M ^a  

^a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^b ADELAIDE AND MEATH HOSPITAL   (Ireland)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e MAYO CLINIC   (United States)

^f KING'S COLLEGE LONDON   (United Kingdom)

^g EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

BAG3; Bcl 2 associated athanogene; Charcot Marie Tooth disease; Giant axons; Myofibrillar myopathy

Indexed keywords

CARRIER PROTEINS AND BINDING PROTEINS; PROTEIN BCL 2 ASSOCIATED ATHANOGENE 3; UNCLASSIFIED DRUG;

ACHILLES TENDON; ACHILLES TENDON RUPTURE; ADOLESCENT; ARTHROPATHY; ARTICLE; ASSISTED VENTILATION; BONE ANTEVERSION; BONE RETROVERSION; CARDIOPULMONARY INSUFFICIENCY; CASE REPORT; CAUCASIAN; CHILD; CONSANGUINEOUS MARRIAGE; DELTOID MUSCLE; DEVELOPMENTAL COORDINATION DISORDER; DYSGRAPHIA; ELBOW FLEXION; FALLING; FEMALE; FEMUR; FLEXION CONTRACTURE; FOOT MALFORMATION; FORCED VITAL CAPACITY; GAIT DISORDER; GENE MUTATION; GIANT AXON; GIANT AXONAL NEUROPATHY; HAMMER TOE; HAND TREMOR; HEART TRANSPLANTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; HYPOVENTILATION; INTERCOSTAL MUSCLE; JOINT MOBILITY; LIMB WEAKNESS; LUMBAR SPINE; MALE; MORNING STIFFNESS; MORTALITY; MUSCLE ATROPHY; MUSCLE HYPERTROPHY; MUSCLE RIGIDITY; MUSCLE STIFFNESS; MUSCLE WEAKNESS; NERVE BIOPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; ORTHOSIS; PIGEON THORAX; PRIORITY JOURNAL; PROPRIOCEPTION; PTOSIS; REFLEX DISORDER; RESPIRATORY TRACT DISEASE; RESTRICTIVE CARDIOMYOPATHY; SCHOOL CHILD; SCOLIOSIS; SENSORY DYSFUNCTION; SPINE DISEASE; SPINE RADIOGRAPHY; SURAL NERVE; TENDON DISEASE; TENDON REFLEX; TENDON TRANSFER; TIBIA; VIBRATION SENSE; WHEELCHAIR; X RAY;

ACTION POTENTIALS; ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; CHILD; ELECTROMYOGRAPHY; FEMALE; GIANT AXONAL NEUROPATHY; HUMANS; MALE; MUTATION;

EID: 84863441874     PISSN: 10859489     EISSN: 15298027     Source Type: Journal    
DOI: 10.1111/j.1529-8027.2012.00409.x     Document Type: Article

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