Hyaline body myopathy (Q90783): Difference between revisions

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Latest revision as of 17:46, 15 August 2026

Hyaline body myopathy is a rare congenital myopathy that manifests with subsarcolemmal hyalinized bodies in type 1 fibres. Ultrastructurally, hyalinized bodies in muscle biopsy samples appear to consist of fine filamentous or granular material and not to have a surrounding membrane. The neighbouring myofibrils were normal, with no sign of degeneration. The clinical findings are diverse, with either scapulo-peroneal weakness or limb girdle weakness. The age of onset in the patients reported varied from early childhood to the fifth decade of life.

Language	Label	Description	Also known as
default for all languages	ID_352828432
English	Hyaline body myopathy	Hyaline body myopathy is a rare congenital myopathy that manifests with subsarcolemmal hyalinized bodies in type 1 fibres. Ultrastructurally, hyalinized bodies in muscle biopsy samples appear to consist of fine filamentous or granular material and not to have a surrounding membrane. The neighbouring myofibrils were normal, with no sign of degeneration. The clinical findings are diverse, with either scapulo-peroneal weakness or limb girdle weakness. The age of onset in the patients reported varied from early childhood to the fifth decade of life.