Diagnosis of DMD carrier status in a family with no known affected males.
A 30-year-old woman and her two-year-old daughter were found by chance to have moderately raised serum creatine kinase (CK) levels. Since the mother was pregnant, the authors investigated the possibility that the two females were carriers of the common Duchenne muscular dystrophy (DMD) gene. No immunohistochemical abnormality was detected in the mother, but in the daughter a clear mosaic pattern of dystrophin positive and negative fibres was found, indicating carrier status for DMD. These data indicate that a diagnosis of DMD carrier status can be made even in families without a positive history for this disorder; therefore, immunocytochemical studies, using antidystrophin antibodies, should be performed on all females with raised CK levels, including the youngest.
Muntoni
F
F
Istituto di Neuropsichiatria Infantile, Cagliari, Italy.
Mateddu
A
A
Cau
M
M
Congiu
R
R
Puddu
R
R
Cossu
P
P
Cao
A
A
Melis
M A
MA
D002675:Child, Preschool; D003402:Creatine Kinase / Q000032:analysis / Q000235:genetics*; D016189:Dystrophin / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007150:Immunohistochemistry; D009132:Muscles / Q000737:chemistry / Q000201:enzymology; D009136:Muscular Dystrophies / Q000201:enzymology / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length
D016189:Dystrophin; D003402:Creatine Kinase