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We describe a young man manifesting as length\u2010dependent sensorimotor neuropathy with hypertrophic cardiomyopathy, but his mother only had very mild symptoms of peripheral neuropathy. The electrophysiological data meet the criteria of intermediate CMT. The main pathological findings of sural nerve biopsy reveal a severe loss of large myelinating fibers and some clusters of regenerative fibers in fascicles, which are consistent with an axonal neuropathy. However, myopathological changes show a chronic myopathy\u2010like pattern characterized by great variations of fiber size, increased connective tissue, rimmed vacuoles and predominance of type 2 fibers. A novel <jats:italic>DNM2<\/jats:italic> mutation (p.G359D) in the middle domain is identified, which is highly evolutionarily conserved. <jats:italic>DNM2<\/jats:italic>\u2010related CMT disease is phenotypically heterogeneous in age at onset, clinical features and electrophysiological changes. The histopathological findings indicate the coexistence of typical axonal neuropathy and chronic myopathy in <jats:italic>DNM2<\/jats:italic>\u2010related neuromuscular diseases.<\/jats:p>","DOI":"10.1111\/neup.12432","type":"journal-article","created":{"date-parts":[[2017,10,3]],"date-time":"2017-10-03T07:16:46Z","timestamp":1507015006000},"page":"34-40","source":"Crossref","is-referenced-by-count":15,"title":["Phenotype variability and histopathological findings in patients with a novel <i>DNM2<\/i> mutation"],"prefix":"10.1111","volume":"38","author":[{"given":"Shuyun","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital of Nanchang University  Nanchang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ping","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Nutrition The First Affiliated Hospital of Nanchang University  Nanchang 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