Table 1.

Clinical Data of Patients Carrying ANO5 Mutations

Phenotype	Fam-IDa	Ethnic Bckg	Sex	ANO5 Mutations (gDNA)	Age (2009)	Age of Onset	Distal Weakness Arm	Iliops. MRC	Quad. Atrophy	Quad. MRC	Calf Muscles	Distal Weakness Leg	Loss of Walking	Maximum CK (IU)
LGMD2L	IX-II-321	FC	F	c.1295C>Gb	68	AS	none	4/5	+	5/5	none	none	no	1,649
LGMD2L	IX-II-421	FC	M	c.1295C>Gb	67	40	none	4/5	+	4.5/5	mild atrophy	none	no	1,032
LGMD2L	IX-II-521	FC	M	c.1295C>Gb	65	37	none	4/5	+	4/5	mild atrophy	none	no	1,156
LGMD2L	IX-II-921	FC	M	c.1295C>Gb	47	20	none	4/5	+	5/5	mild atrophy	none	no	6,000
LGMD2L	XXXI-II-11	FC	M	c.1295C>Gb	43	20	none	4/5	+	5/5	atrophy	calf muscles 4/5	no	8,081
LGMD2L	XXXI-II-3	FC	F	c.1295C>Gb	61	AS	none	4.5/5	-	5/5	hypertrophy	none	no	4,061
LGMD2L	XXIX-II-1	FC	F	c.191 dupA/c.692G>T	64	55	none	3.5/5	+	4.5/5	hypertrophy	tibialis ant.4/5	no	1,339
MMD3	H-II-624	Fin	M	c.2272C>Tb	44	20	none	Sin 4/5	+	4/5/2/5	hypertrophy	calf muscles 2/5	no	15,860
MMD3	H-II-424	Fin	M	c.2272C>Tb	50	25	none	5/5	-	5/5	hypertrophy	calf muscles 4/5	no	12,290
MMD3	IV-II-123	Du	M	c.191 dupAb	72	51	none	4/5	-	4/5	none	calf muscles 2/5	no	5,400
MMD3	IV-II-423	Du	M	c.191 dupAb	67	45	none	5/5	+	5/5	none	calf muscles 2/5	no	4,500
MMD3	IV-II-1223	Du	M	c.191 dupAb	53	39	none	5/5	-	5/5	none	calf muscles 2/5	no	4,800
Means						37								5,514

Abbreviations: Ethnic bckg, ethnic background; FC, French Canadian; Fin, Finnish; Du, Dutch; AS, asymptomatic; Quad., quadriceps; Iliops., iliopsoas; MRC, Medical Research Council muscle strength scale; Tibialis ant., Tibialis anterior

^aFamilies IX, H, and IV refer to original articles (see ^21,23,24).

^bPatients homozygous for the mutation.