Complications of advanced Fukuyama congenital muscular dystrophy from a nationwide registry


Fukuyama congenital muscular dystrophy (FCMD), the most common CMD in Japan, features cortical migration defects. Most patients die of respiratory dysfunction, congestive heart failure and suffocation or aspiration pneumonia around age 20 years. In 2013, the Japan muscular dystrophy association developed an FCMD patient registry of FCMD. From October 2011 through September 2013, 207 Japanese FCMD patients (104 boys; 103 girls) in total were registered (0–42 years). A homozygous founder 3-kb insertion mutation in the FKTN gene was present in 80% of registrants, while 20% had a compound heterozygous mutation.


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