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

Neuromuscul Disord. 1994 Jul;4(4):349-58. 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Blotting, Western
  • Child
  • Child, Preschool
  • Dystrophin / metabolism
  • Genetic Linkage*
  • Humans
  • Immunohistochemistry
  • Middle Aged
  • Muscular Dystrophies / classification
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / physiopathology
  • Phenotype
  • Severity of Illness Index
  • X Chromosome*


  • Dystrophin

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