Muscle pathology of hereditary motor and sensory neuropathy with proximal dominant involvement with TFG mutation.
Satoshi YamashitaEn KimuraZiwei ZhangNozomu TawaraKentaro HaraAkiko YoshimuraHiroshi TakashimaYukio AndoPublished in: Muscle & nerve (2019)
The present study demonstrates myopathic changes in HMSN-P. Although the mechanisms underlying the skeletal muscle involvement remain to be elucidated, immunohistochemistry suggests that abnormal protein aggregation may be involved in the myopathic pathology.