Abstrakt
We report a 24-year-old male with an unusual combination of two inherited neuromuscular disorders - Charcot-Marie-Tooth (CMT) disease type 1A and Duchenne muscular dystrophy (DMD). A phenotypic presentation of this patient included features of both these disorders.
Nerve conduction studies revealed demyelinating peripheral neuropathy. Electromyography showed a profound myogenic pattern.
The serum creatine kinase level was highly elevated. Muscle biopsy revealed a dystrophic picture with deficient dystrophin immunostaining.
CMT1A duplication on chromosome 17p11.2 was found. The frame-shift mutation c.3609-3612delTAAAinsCTT (p.K1204LfsX11) was detected in the dystrophin gene by analysing mRNA isolated from the muscle tissue.
The patient inherited both these mutations from his mother. The combination of CMT1A and DMD has not been reported as yet.