| A rare congenital muscular dystrophy with characteristics of prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported. Caused by heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22. |
