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Background and purpose
Mutations in the small heat‐shock protein 22 gene (HSPB8) have been associated with Charcot‐Marie‐Tooth disease type 2L, distal hereditary motor neuropathy (dHMN) type IIa and, more recently, distal myopathy/myofibrillar myopathy (MFM) with protein aggregates and TDP‐43 inclusions. The aim was to report a novel family with HSPB8K141E‐related dHMN/MFM and to investigate, in...
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