title: A G+1-->A transversion at the 5' splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp116 and severe clinical involvement in a DMD patient.
authors.affiliation: Institute of Clinical Neurology, Dino Ferrari Center, University of Milano, Italy.
authors.forename: G P
authors.initials: GP
authors.lastname: Comi
authors.forename: E
authors.initials: E
authors.lastname: Ciafaloni
authors.forename: H A
authors.initials: HA
authors.lastname: de Silva
authors.forename: A
authors.initials: A
authors.lastname: Prelle
authors.forename: A
authors.initials: A
authors.lastname: Bardoni
authors.forename: C
authors.initials: C
authors.lastname: Rigoletto
authors.forename: M
authors.initials: M
authors.lastname: Robotti
authors.forename: N
authors.initials: N
authors.lastname: Bresolin
authors.forename: M
authors.initials: M
authors.lastname: Moggio
authors.forename: F
authors.initials: F
authors.lastname: Fortunato
mesh_terms: D000225:Adenine; D001483:Base Sequence; D002648:Child; D004247:DNA; D016189:Dystrophin / Q000172:deficiency / Q000235:genetics*; D006147:Guanine; D006801:Humans; D007438:Introns; D008297:Male; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism; D017354:Point Mutation; D012326:RNA Splicing / Q000235:genetics*; D012333:RNA, Messenger / Q000032:analysis; D013497:Sural Nerve / Q000378:metabolism*
chemical_list: D016189:Dystrophin; D012333:RNA, Messenger; D006147:Guanine; D004247:DNA; D000225:Adenine