Table 1.

Clinical data on Colombian calpain 3-related LGMD R1 patients. Cases are referenced as in the genealogical tree (Figure 1).

Case	Sex	Age at Onset (Years)	Onset of Impairment	Age	Functional Stage	Age Ambulation Lost (Years)	CK	Observations
V3	Female	8	Pelvic	14	II–III	Still walking	X 15	Contractures of the elbows, ankles neck and Achilles tendons
V4	Male	14	Pelvic	22	IV	Still walking	X 14	Described clinical manifestations for case 1 plus inability to climb stairs
V5	Female	10	Pelvic	29	V	Still walking	X 10	Described manifestations for cases 1 and 2 plus inability to stand up from a sitting position
V7	Male	12	Pelvic	41	VI	Walks only with aid	X 4	Described above for cases 1, 2 and 3 plus walking only with assistance and equinovarus foot.
V8	Female	10	Pelvic	44	VII	Ambulation lost	X 2	Manifestations above plus ambulation lost