Fig. 2.

Clinical phenotype of RR-MADD patient. a Patient at age 12 shows marked neck and trapezius muscle weakness with dropping head; b Patient at age 54 raising from floor has better head control in Gowers manoeuvre; c Sudan Black B stain shows positivity in muscle biopsy at age 12; d with acid ATPase type I fibers appear vacuolated and (e) with Sudan black B stain vacuoles appear positive in a muscle biopsy performed at age 15