Clinical-molecular correlation in 104 mild X-linked muscular dystrophy patients: characterization of sub-clinical phenotypes.
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.
Angelini
C
C
Neuromuscular Center, University of Padova, Italy.
Fanin
M
M
Pegoraro
E
E
Freda
M P
MP
Cadaldini
M
M
Martinello
F
F
D000293:Adolescent; D000328:Adult; D000368:Aged; D015153:Blotting, Western; D002648:Child; D002675:Child, Preschool; D016189:Dystrophin / Q000378:metabolism; D008040:Genetic Linkage; D006801:Humans; D007150:Immunohistochemistry; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000145:classification / Q000235:genetics* / Q000503:physiopathology; D010641:Phenotype; D012720:Severity of Illness Index; D014960:X Chromosome
D016189:Dystrophin