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Article

A family with adult-onset myofibrillar myopathy with BAG3 mutation (P470S) presenting with axonal polyneuropathy.

Neuromuscular disorders : NMD - 1 Sept 2020

Hamaguchi Mai, Kokubun Norito, Inoue Michio, Komagamine Tomoko, Aoki Reika, Nishino Ichizo, Hirata Koichi

Abstract excerpt

We report a family with adult-onset myofibrillar myopathy with BAG3 mutation who presented peroneal weakness and axonal polyneuropathy, mimicking axonal Charcot-Marie-Tooth disease. The male proband noticed difficulty in tiptoeing at age 34. At age 42, the examination showed muscle weakness and atrophy in distal lower extremities with diminished patellar and Achilles tendon reflexes. Thermal and vibration...

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Source

Identifiers

PMID: 32859500
DOI: 10.1016/j.nmd.2020.07.012

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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