Article
A novel mutation in FGD4 causes Charcot-Marie-Tooth disease type 4H with cranial nerve involvement.
Neuromuscular disorders : NMD - 1 Oct 2017
Kondo Daisuke, Shinoda Koji, Yamashita Ken-Ichiro, Yamasaki Ryo, Hashiguchi Akihiro, Takashima Hiroshi, Kira Jun-Ichi
Abstract excerpt
Charcot-Marie-Tooth disease type 4H (CMT4H) is a rare variant of autosomal recessive hereditary neuropathy. It is caused by FGD4 mutations and characterized by early infantile onset, slowly progressive distal muscle weakness, scoliosis, and myelin outfoldings visible in nerve biopsy samples. Here, we report a 65-year-old male born to consanguineous parents, who carries a novel homozygous FGD4 c.724C>T nonsense...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.