Table 1.

Patient characteristics

Patient	Age at diagnosis	Sex	Family history	Muscle weakness	Myalgia	CK at biopsy (U/l)	Cataract	Diabetes
I*	52	f	No	Yes	Yes	536	Yes	No
II*	56	f	Yes	Yes	Yes	610	No	No
III*	54	m	No	Yes	No	560	Yes	No
IV*	68	f	No	Yes	Yes	732	Yes	Yes
V*	76	m	No	Yes	Yes	705	Yes	No
VI*	56	f	No	Yes	No	n/a	Yes	No
VII*	70	m	No	Yes	Yes	680	No	Yes
VIII	59	m	Yes	Yes	Yes	178	Yes	No

CK creatine kinase (units/liter); upper limit of normal 190 U/l

^*Biopsies included in the proteomic analysis