CHR 9 The cause of<unk>  is rooted in the FKTN gene, located at human chromosome 9q31, codes for the protein fukutin. Mutations in this gene, and therefore the fukutin protein, are the cause of<unk> . The disease is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome (chromosome 9 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene but usually do not experience any signs or symptoms of the disorder. Two mutations have been identified. The first and most common is an SVA retrotransposal insertion in the 3'-untranslated region. The second is a deep-intronic point mutation c.647+2084G>T. This second mutation has only been found to date in the presence of the first mutation.
Fukuyama congenital muscular dystrophy
Ullrich congenital muscular dystrophy
Jokela type spinal muscular atrophy
Becker muscular dystrophy
X-linked spinal muscular atrophy type 2
Madras motor neuron disease
Distal spinal muscular atrophy type 2
Emery–Dreifuss muscular dystrophy