Clinical-molecular correlation in 104 mild X-linked muscular dystrophy patients: Characterization of sub-clinical phenotypes

• Published in: Neuromuscular disorders : NMD Vol. 4; no. 4; pp. 349 - 358
• Main Authors: Angelini, C., Fanin, M., Pegoraro, E., Freda, M.P., Cadaldini, M., Martinello, F.
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.07.1994
• Subjects: Adolescent; Adult; Aged; Blotting, Western; Child; Child, Preschool; clinical phenotype; dystrophin; Dystrophin - metabolism; Genetic Linkage; Humans; immunoblot; Immunohistochemistry; Middle Aged; Mild X-linked muscular dystrophy; Muscular Dystrophies - classification; Muscular Dystrophies - genetics; Muscular Dystrophies - physiopathology; Phenotype; Severity of Illness Index; X Chromosome; Mild X-linked muscular dystrophy; dystrophin; immunohistochemistry; immunoblot; clinical phenotype
• ISSN: 0960-8966; 1873-2364
• DOI: 10.1016/0960-8966(94)90071-X

A multidisciplinary study was conducted in order to assess dystrophin expression in a large series of mild X-linked muscular dystrophy patients, with well-defined clinical phenotype. Patients (104) were divided in 4 clinical groups, according to clinical severity: asymptomatic (sub-clinical), benign, moderate and severe, Cardiopathy was also assessed, and dilated cardiomyopathy was found in 47% of sub-clinical and benign cases. Myoglobinuria, cramps and myalgia were also associated with a sub-clinical or benign clinical status. Dystrophin immunohistochemical pattern of labelling and dystrophin amount decreased gradually across clinical groups. Our study showed a significative correlation between: (1) dystrophin amount and immunohistochemical score ( p < 0.05); (2) dystrophin amount and clinical score ( p < 0.05). Therefore, the combined use of these different techniques for prognosis of mild X-linked muscular dystrophy patients is useful. Our study assesses the prevalence of the various disease courses in a large cohort of mild X-linked muscular dystrophy patients. From our series, up to 30% of patients may be either asymptomatic or have sub-clinical changes.