Atrophy of muscle fibres due to myofibres remodelling
Symptoms Skeletal muscle atrophy, severe muscle weakness, exercise intolerance
Gene involved PTPLA
Mutation tested c.191_192ins236b
Transmission mode : Autosomal recessive
Publication : Pelé et al. (2005). SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs.
Gene involved BIN1
Mutation tested c.962+1309A>G
Transmission mode : Autosomal recessive
Publication : Böhm et al. (2013). Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy.