RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine

Neuromuscular Disorders

Volumn 24, Issue 8, 2014, Pages 707-712

  Illingworth, M A ^a   Main, M ^a   Pitt, M ^b   Feng, L ^a   Sewry, C A ^a,c   Gunny, R ^b   Vorstman, E ^d   Beeson, D ^e   Manzur, A ^a   Muntoni, F ^a   Robb, S A ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c ROBERT JONES AND AGNES HUNT ORTHOPAEDIC HOSPITAL   (United Kingdom)

^d GLOUCESTERSHIRE ROYAL HOSPITAL   (United Kingdom)

^e JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

Congenital fibre type disproportion; Electrophysiology; Fatigability; Muscle MRI; RYR1 congenital myopathy

Indexed keywords

PYRIDOSTIGMINE; RYANODINE RECEPTOR 1; SALBUTAMOL; CHOLINESTERASE INHIBITOR; RYANODINE RECEPTOR; STOP CODON;

ACHILLES TENDON; ARTICLE; CASE REPORT; CHILD; DRUG EFFICACY; FACIES; FATIGUE; FEMALE; GAZE; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; INFANT; LUNG FUNCTION TEST; MALE; MOTOR PERFORMANCE; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; MYOPATHY; NEUROPHYSIOLOGY; PHYSIOTHERAPY; POLYSOMNOGRAPHY; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; RESPIRATORY TRACT INFECTION; RYR1 GENE; SCOLIOSIS; TENDON CONTRACTURE; BIOPSY; DRUG EFFECTS; GENETICS; MUSCLE; MUSCLE FATIGUE; MYOTONIA CONGENITA; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PATHOPHYSIOLOGY; PHYSIOLOGY; SIBLING; STOP CODON; TREATMENT OUTCOME;

BIOPSY; CHOLINESTERASE INHIBITORS; CODON, NONSENSE; FEMALE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MUSCLE FATIGUE; MUSCLES; MYOTONIA CONGENITA; PYRIDOSTIGMINE BROMIDE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; SIBLINGS; TREATMENT OUTCOME;

EID: 84903892568     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2014.05.003     Document Type: Article

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