We studied 5 patients from 3 unrelated families with a myofibrillar myopathy (MFM) characterized by a phenotype of slowly progressive camptocormia and bilateral foot drop appearing around age 40 years, followed by proximal lower and upper limbs weakness appearing around age 50 years. Exome and targeted sequencing revealed a new frameshift mutation in HSPB8, the gene that encodes the small heat shock protein 22. Until now, HSPB8 mutations have been reported in patients with distal hereditary motor neuropathy (dHMN), axonal Charcot-Marie-Tooth disease, and dHMN associated with distal MFM.

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