TY - JOUR
T1 - Duplication of dystrophin gene and dissimilar clinical phenotype in the same family
AU - Toscano, A.
AU - Vitiello, L.
AU - Comi, G. P.
AU - Galvagni, F.
AU - Miorin, M.
AU - Prelle, A.
AU - Fortunato, F.
AU - Bardoni, A.
AU - Mora, M.
AU - Fiumara, A.
AU - Falsaperla, R.
AU - Tomelleri, G.
AU - Tonin, P.
AU - Danieli, G. A.
AU - Vita, G.
PY - 1995
Y1 - 1995
N2 - We report here three related patients with a duplication of exons 19-41 of the dystrophin gene, having dissimilar clinical phenotype and dystrophin immunohistochemistry. Two brothers aged six and three years had myalgia, proximal muscular weakness and hypertrophic calves, with 10- to 20-fold increase of serum creatine kinase. Muscle biopsy showed dystrophic changes and reduced, patchy binding of dystrophin. The clinical and laboratory findings were consistent with a diagnosis of Becker muscular dystrophy with early onset. Their 14-year-old cousin had only mild hyperCKemia. His muscle biopsy was normal with only mild reduction of dystrophin immunostaining. At follow-up, he is still without symptoms and signs at age 19. All three patients had the same gene duplication and an increased dystrophin size of 507 kDa. Expression of the dystrophin-associated glycoproteins adhalin, α-dystroglycan, and, β-dystroglycan were normal in the three patients. An intrafamilial variability in patients carrying a partial duplication of the dystrophin gene may be related to a quantitative difference in mRNA.
AB - We report here three related patients with a duplication of exons 19-41 of the dystrophin gene, having dissimilar clinical phenotype and dystrophin immunohistochemistry. Two brothers aged six and three years had myalgia, proximal muscular weakness and hypertrophic calves, with 10- to 20-fold increase of serum creatine kinase. Muscle biopsy showed dystrophic changes and reduced, patchy binding of dystrophin. The clinical and laboratory findings were consistent with a diagnosis of Becker muscular dystrophy with early onset. Their 14-year-old cousin had only mild hyperCKemia. His muscle biopsy was normal with only mild reduction of dystrophin immunostaining. At follow-up, he is still without symptoms and signs at age 19. All three patients had the same gene duplication and an increased dystrophin size of 507 kDa. Expression of the dystrophin-associated glycoproteins adhalin, α-dystroglycan, and, β-dystroglycan were normal in the three patients. An intrafamilial variability in patients carrying a partial duplication of the dystrophin gene may be related to a quantitative difference in mRNA.
KW - Becker muscular dystrophy
KW - dystrophin
KW - Xp21 gene duplication
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U2 - 10.1016/0960-8966(95)00008-B
DO - 10.1016/0960-8966(95)00008-B
M3 - Article
C2 - 8580729
AN - SCOPUS:0028866272
VL - 5
SP - 475
EP - 481
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
SN - 0960-8966
IS - 6
ER -