A novel mutation in FGD4 causes Charcot–Marie–Tooth disease type 4H with cranial nerve involvement

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Charcot–Marie–Tooth disease (CMT) is a group of hereditary polyneuropathies classified by heredity and pathology as either demyelinating or axonal [1]. CMT type 4H (CMT4H) is a rare autosomal recessive demyelinating form characterized by early disease onset and slow progression [2–7]. Several mutations in FDG4, a member of the family of Cdc42-specific guanine nucleotide exchange factors, have been identified as causative in CMT4H. Here, we report an atypical adult case of CMT4H with a novel c.724C>T mutation in FGD4 that manifests as a very slow progressive sensorimotor polyneuropathy with cranial nerve involvement.

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