Abstrakt
Inherited neuromuscular disorders represent a common group of neurologic diseases. There have been a number of spectacular molecular genetic advances in these disorders in recent years.
Size 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.
In HMSN IA the examination of a single motor nerve is reliable in screening of affected families.