A rare case of isolated IBM — HNRNPA2B1associated myopathy with inclusion bodies
https://doi.org/10.30629/0023-2149-2023-101-4-5-247-251
Abstract
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.
About the Authors
F. I. Isaev
Privolzhsky Research Medical University of the Ministry of Health of Russia
Russian Federation
Russian Federation
Isaev Farid I.
603005, Nizhny Novgorod
E. A. Antipenko
Privolzhsky Research Medical University of the Ministry of Health of Russia
Russian Federation
Russian Federation
Antipenko Elena A.
603005, Nizhny Novgorod
M. N. Erokhina
Privolzhsky Research Medical University of the Ministry of Health of Russia
Russian Federation
Russian Federation
Erokhina Margarita N.
603005, Nizhny Novgorod
E. V. Parshina
Privolzhsky Research Medical University of the Ministry of Health of Russia; Nizhny Novgorod Regional Clinical Hospital named after N.A. Semashko
Russian Federation
Russian Federation
Parshina Elena V.
603005, Nizhny Novgorod
603126, Nizhny Novgorod
T. Yu. Kozlova
Nizhny Novgorod Regional Clinical Hospital named after N.A. Semashko
Russian Federation
Russian Federation
Kozlova Tatiana Yu.
603126, Nizhny Novgorod
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Review
For citations:
Isaev F.I., Antipenko E.A., Erokhina M.N., Parshina E.V., Kozlova T.Yu. A rare case of isolated IBM — HNRNPA2B1associated myopathy with inclusion bodies. Clinical Medicine (Russian Journal). 2023;101(4-5):247–251. (In Russ.) https://doi.org/10.30629/0023-2149-2023-101-4-5-247-251
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