Patient 5 at the age of 4.5 years. The parents of the patient are consanquineous. They are second grade cousins. He had a rhabdomyolysis attack when he was two years old. He was misdiagnosed as Guillan-Barre syndrom. The proper diagnosis was made only when he was four years old, according to congenital cataract, developmental delay, demyelinating neuropathy and an attack of rhabdomyolysis.