Key result
Rare HNRNPA2B1-associated myopathy shows diverse clinical phenotypes across generations in a single family.
Case Report
This case report highlights the phenotypic diversity of the rare HNRNPA2B1-associated myopathy within a single family.
May complicate diagnosis due to intrafamilial variability; leaves open broader genotype-phenotype mapping in HNRNPA2B1 myopathy.
Hereditary inclusion body myopathy (IBM) is a variant of multisystem proteinopathy. It is a generalized progressive disease with autosomal recessive or autosomal dominant inheritance, characterized by the development of a degenerative process in muscle fi bers due to the accumulation of rimmed vacuoles and nuclear intermediate fi laments. This article presents a clinical observation of a rare variant of IBM — HNRNPA2B1-associated myopathy with a phenotypically diverse picture in representatives of one family from diff erent generations.
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Isaev et al. (2023) conducted a case report in Hereditary inclusion body myopathy (IBM) / HNRNPA2B1-associated myopathy. A rare variant of hereditary inclusion body myopathy, HNRNPA2B1-associated myopathy, presented with a phenotypically diverse clinical picture across different generations of a single family.
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