Neuromuscular disorders : NMD, 2014-08, Vol.24 (8), p.707-712
2014
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Details
- Autor(en) / Beteiligte
- Titel
- RYR1 -related congenital myopathy with fatigable weakness, responding to pyridostigimine
- Ist Teil von
- Neuromuscular disorders : NMD, 2014-08, Vol.24 (8), p.707-712
- Ort / Verlag
- England: Elsevier B.V
- Erscheinungsjahr
- 2014
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- Highlights • We report two siblings with RYR1 -related myopathy, mimicking congenital myasthenia. • In this sibship, fatiguability responded dramatically to pyridostigimine initially. • Response to pyridostigimine was non-sustained prompting diagnostic review • A selective pattern of involvement on muscle MRI directed RYR1 gene sequencing. • This report supports the validity of muscle MRI in directing genetic investigation.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0960-8966eISSN: 1873-2364DOI: 10.1016/j.nmd.2014.05.003Titel-ID: cdi_proquest_miscellaneous_1551642589
- Format
- –
- Schlagworte
- Biopsy, Cholinesterase Inhibitors - therapeutic use, Codon, Nonsense, Congenital fibre type disproportion, Electrophysiology, Fatigability, Female, Humans, Infant, Magnetic Resonance Imaging, Male, Muscle Fatigue - drug effects, Muscle Fatigue - physiology, Muscle MRI, Muscles - drug effects, Muscles - pathology, Muscles - physiopathology, Myotonia Congenita - drug therapy, Myotonia Congenita - genetics, Myotonia Congenita - pathology, Myotonia Congenita - physiopathology, Neurology, Pyridostigmine Bromide - therapeutic use, Ryanodine Receptor Calcium Release Channel - genetics, RYR1 congenital myopathy, Siblings, Treatment Outcome