| A subtype of autosomal recessive limb girdle muscular dystrophy with characteristics of childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadriparesis, calf hypertrophy, triangular tongue and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration. |
