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A novel mutation in the FGD4 gene causing Charcot‐Marie‐Tooth disease
Author(s) -
Zis Panagiotis,
Reilly Mary M.,
Rao Dasappaiah G.,
Tomaselli Pedro,
Rossor Alex M.,
Hadjivassiliou Marios
Publication year - 2017
Publication title -
journal of the peripheral nervous system
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 67
eISSN - 1529-8027
pISSN - 1085-9489
DOI - 10.1111/jns.12222
Subject(s) - pes cavus , medicine , ataxia , kyphoscoliosis , neurological examination , family history , pediatrics , medical history , scoliosis , surgery , complication , psychiatry
Demyelinating forms of Charcot-Marie-Tooth (CMT) result from mutations in a number of genes, the majority of which show an autosomal dominant pattern of inheritance [1]. Recessive patterns of inheritance are less common. We report a case of demyelinating CMT resulting from compound heterozygous mutation in the FGD4 gene.