Becker-type muscular dystrophy. Report of a family with one postmortem study.
Becker-type muscular dystrophy (BMD) is reported in two brothers. In one of the patients, the molecular demonstration of an in-frame deletion of exons 45, 46 and 47 has confirmed the clinical and pathological diagnosis of BMD. The autopsy of the other patient revealed mild neuronal losses in the anterior horns at C8, lumbar and sacral levels of the spinal cord. Mild neuronal losses in the spinal cord may explain the mixed type of neurogenic-myogenic features in the skeletal muscles of adult BMD patients.
Martin
J J
JJ
Department of Neurology, Born-Bunge Foundation, Universitaire Instelling Antwerpen, Belgium.
Leroy
J
J
Ceuterick
C
C
Lübke
U
U
Van Buggenhout
E
E
Van Vuchelen
J
J
Van Broeckhoven
C
C
D000328:Adult; D002872:Chromosome Deletion; D005091:Exons / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D009460:Neurologic Examination; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000235:genetics; D013116:Spinal Cord / Q000473:pathology; D014960:X Chromosome