RYR1 causing distal myopathy
نویسندگان
چکیده
منابع مشابه
RYR1 causing distal myopathy
BACKGROUND Congenital myopathies due to ryanodine receptor (RYR1) mutations are increasingly identified and correlate with a wide range of phenotypes, most commonly that of malignant hyperthermia susceptibility and central cores on muscle biopsy with rare reports of distal muscle weakness, but in the setting of early onset global weakness. METHODS We report a case of a patient presenting with...
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ژورنال
عنوان ژورنال: Molecular Genetics & Genomic Medicine
سال: 2017
ISSN: 2324-9269
DOI: 10.1002/mgg3.338