Muscular dystrophy. Dr. Derakhshandeh. Muscular dystrophy. Muscular dystrophy (MD) is a group of rare inherited muscle diseases in which muscle fibers are unusually susceptible to damage. Muscles, primarily voluntary muscles, become progressively weaker
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~95% of deletions can be detected in males using multiplex PCR
Armour et al (Nucl.Acids Res. 2000)
Rarely, infants have this form of muscular dystrophy, in which case it's called congenital myotonic dystrophy.
Signs in infants include:
Severe muscle weakness
Difficulty suckling and swallowing