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  • Genotype/phenotype correlations in neuromuscular disorders
    Kraus, J... ...
    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 12-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 contiquous gene syndrome with AGDCR phenotype. In HMSN IA the examination of a single motor nerve is reliable in screening of affected families.
    Vir: 9th European Congress of Clinical Neurophysiology : ECCN 98 : Ljubljana, Slovenia, June 4-7, 1998 (Str. 639-642)
    Vrsta gradiva - prispevek na konferenci
    Leto - 1998
    Jezik - angleški
    COBISS.SI-ID - 9569753

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