Merosin Deficient Congenital Muscular Dystrophy Type 1A (MDC1A): MDC1A is a common form of congenital muscular dystrophy with an incidence estimated at 0.89/100,000. MDC1A is caused by mutations in the LAMA2 gene located on human chromosome 6q22-23 resulting in loss or a truncated form of laminin-α2 protein. Loss of laminin-α2 protein in MDC1A results in the absence of laminin-211/221 (merosin), the major component of the basal lamina, that surrounds skeletal and cardiac muscle. MDC1A patients exhibit severe muscle weakness from birth (“floppy baby” syndrome), dysmyelinating neuropathy, muscle atrophy and limited eye movement. Patients exhibit feeding problems and/or respiratory difficulties and often require the placement of a feeding tube and/or ventilator assistance. Most MDC1A patients are unable to walk without assistance and are confined to a wheelchair. MDC1A patients exhibit changes in brain white matter that is observed after 6 months of age and associated with increased likelihood of seizures. There is currently no cure or effective treatment for MDC1A and patients can die as early as the first decade of life.