Author/Editor		Kraus, J; Mušova, Z; Bodaj, A; Kožich, V; Matoška, V; Krejčova, Š
Title		Genotype/phenotype correlations in neuromuscular disorders
Type		članek
Source		In: Stalberg EV, de Weerd AW, Zidar J, editors. ECCN 98. 9th European congress of clinical neurophysiology; 1998 Jun 4-7; Ljubljana. Bologna: Monduzzi editore,
Publication year		1998
Volume		str. 639-42
Language		eng
Abstract		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.
Descriptors		MUSCULAR DYSTROPHY GENOTYPE PHENOTYPE EXONS CHILD POLYMERASE CHAIN REACTION POLYMORPHISM (GENETICS)