Certain specified myofibrillar myopathy (Q84643): Difference between revisions

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Latest revision as of 09:59, 15 August 2026

Myofibrillary myopathy consists of a pathological pattern of myofibrillary dissolution and degradation leading in most cases to the accumulation of myotilin, desmin and αB-crystallin. Most patients develop weakness in the third to fifth decade, although there are reports of onset in infancy and later in life. Some manifest as a relentlessly progressive adult onset myopathy with or without signs of cardiac involvement, but in others the cardiac signs may the leading or exclusive manifestation with cardiomyopathy, congestive heart failure, heart block and arrhythmias.

Language	Label	Description	Also known as
default for all languages	ID_585803264
English	Certain specified myofibrillar myopathy	Myofibrillary myopathy consists of a pathological pattern of myofibrillary dissolution and degradation leading in most cases to the accumulation of myotilin, desmin and αB-crystallin. Most patients develop weakness in the third to fifth decade, although there are reports of onset in infancy and later in life. Some manifest as a relentlessly progressive adult onset myopathy with or without signs of cardiac involvement, but in others the cardiac signs may the leading or exclusive manifestation with cardiomyopathy, congestive heart failure, heart block and arrhythmias.