Abstrakt
A number of spectacular molecular genetic advances in inherited disorders of muscle fibres and peripheral nerves has been achieved in recent years. Type of gene mutation in Duchenne progressive muscle dystrophies (DMD/BMD) correlates with phenotype.
We report a case of an asymptomatic la-years-old boy with a deletion mutation of exon 48, a case with an additional deletion in exon 49 in a nephew and a displacement in polymorphism STR49 which may correspond to an insert mutation, and a case of contiguous gene syndrome with AGDCR phenotype. Tn HMSN IA the examination of a single motor nerve is reliable in screening of affected families.