New aspects on patients affected by dysferlin deficient muscular dystrophy

Table 1

Description of presenting phenotype (LGMD2B/MM/PD/muscle stiffness) functional state (walking, aided walking or wheelchair use with the age of the patients at last examination in years and years since onset of symptoms in parentheses), genetic information, and information on physical activities and sporting before onset of symptoms

Patient No	Phenotype	Ind. walking (years)	Aided walking (years)	Wheelchair use (years)	Exon	Nucleotide change	Protein change	Mutation	Novel	State	Sporting and physical fitness before onset
1	LGMD2B		26 (6)		12	c.1165_1178dup GAGGACTTGCCGCA		Duplication	Yes	Homo	No problems as child
2	LGMD2B				11	c.1016C>G	p.Thr339Arg	Missense	No	Het	No problems, worked as carpenter
					45	c.4968_4972dup	p.Lys1658ThrfsX55	Duplication	No	Het
3	LGMD2B		36 (16)		14 (intron 13)	c.1285-2 A>G		Splice	Yes	Homo	Very successful athlete in mid teens
4	LGMD2B			50 (30)	38	c.4022 T>C,	p.Leu1341Pro	Missense	No	Homo	No problems as child
5	MM				3	c.175delC	p.Leu59TrpfsX92	Nonsense	Yes	Homo	Thai boxing, and football
6	LGMD2B			50 (43)	29	c.3112 C>T	p.Arg1038X	Nonsense	No	Homo	Normal in sports until age 10
7	LGMD2B		32 (12)		37	3992G>T	p.Arg1331Leup.Gln1946TrpfsX19	Missense	No	Homo	No data available
					52	c.5836_5839delCAGC	p.Arg1331Leup.Gln1946TrpfsX19	Deletion	No	Het
8	MM			Occ. 65 (40)	27	c.2875C>T	p.Arg959Trp	Missense	No	Het	Played rugby and joined the army
					32	c.3517dupT	p.Ser1173PhefsX2	Duplication	No	Het
9	LGMD2B	42 (22)			9	c.895 G>T	p.Gly299Trp	Missense	Yes	Homo	No problems until age 20
10	LGMD2B				39	c.4200dupC	p.Ile1401HisfsX7	Nonsense	No	Het	No problems
					25 (intron 24)	c.2643+2T>C		Splice	Yes	Het
11a	MM	17 (6)			2	c.107_108 del AA	p.Ser36fsX11	Deletion	No	Het	Keen horse rider
					28	c.3028C>T	p.Gln1010X	Nonsense	Yes	Het
11b	MM	13 (5)			2	c.107_108 del AA	p.Ser36fsX11	Deletion	No	Het	Keen dancer
					28	c.3028C>T	p.Gln1010X	Nonsense	Yes	Het
12a	LGMD2B	37 (25)			8	c.827delA	p.Glu276GlyfsX11	Deletion	Yes	Het	Slower than his peers
					20	c.1861G>A	p.Gly621Arg	Missense	No	Het
12b	Symptomatic carrier	38 (2)			8	c.827delA	p.Glu276GlyfsX11	Deletion	Yes	Het	Played football well, postman
13	LGMD2B		39 (21)		30	c.3191_3196dup	p.Ala1064_Glu1065dup	Duplication	No	Het	Very fit and sporty, stronger and faster than peers
					31	c.3349-2A>G	Splice	Splice	Yes	Het
					51	c.5698_5699del	p.Ser1900fsX14	Deletion	No	Het
14	MM	35 (10)			37	c.3992 G>T	p.Arg1331Leu	Missense	No	Het	Very strong with lots of muscle training
					39	c.4200dupC	p.Ile1401HisfsX7	Duplication	No	Het
15	Stiffness	81 (8)			11	c.1053+5 G>A		Splice	No	Het	Keen dancer
					41	c.4411-5 C>G		Splice	No	Het
16	MM		41 (31)		7	c.664-9_667del GGCTTTCAGATCA		Splice	No	Het	Competitive dance school
					27	c.2837delA	p.His94ProfsX	Deletion	No	Het
17	MM	31 (9)			12	c.1167_1180dup	p.V398X	Nonsense	Yes	Homo	Always one of the slowest with running
18	LGMD2B		36 (4)		53	c.5979dupA	p.Glu1994ArgfsX3	Duplication	No	Het	Good at sports
					43	c.4684dupA	p.Met1562AsnfsX39	Duplication	Yes	Het
19	MM			39 (8)	32	c.3517dupT	p.Ser1173PhefsX2	Nonsense	No	Homo	Very active and athletic
20	MM		29 (19)		34	c.3832C>T	p.Gln.1278X	Nonsense	No	Het	Captain of school football team
					53	c.5979dupA	p.Glu1993ArgfsX3	Duplication	No	Het
21	LGMD2B			63 (30)	34	c.3773delT	p.Phe1258SerFsX2	Deletion	Yes	Homo	No problems
22a	LGMD2B	30 (2)			15	c.1354-1 G>A		Splice	No	Het	Good strength, worked as joiner
					52	c.5835_5838delCCAG	p.Gln1946TrpfsX18	Deletion	No	Het
22b	LGMD2B				15	c.1354-1 G>A		Splice	No	Het	Good muscle strength
					52	c.5835_5838delCCAG	p.Gln1946Trp fsX18	Deletion	No	Het
23	LGMD2B			48 (23)	46	c.5871_5872delGT	p.Ser1958ProfsX2	Deletion	No	Het	No problems
24	LGMD2B	22 (14)			19	c.1642delG	p.Glu548LysfsX79	Nonsense	No	Homo	Normal until age 8
25	MM	27 (7)			48	c.5341-1 G>A		Splice	Yes	Homo	Not a fast runner
					12	c.1120G>C	p.Val374Leu	Missense	No	Het
26	MM	20 (2)			37	c.3992 G>T	p. Arg1331Leu	Missense	No	Het	Good at sports, gymnastics, hockey, ballet, dancing
					31	c.3444_3445delinsAA	p.Tyr1148X	Insertion	No	Het
27	LGMD2B				6	c.509C>A	p.Ala170Glu	Missense	No	Homo	Normal
					7	c.691C>T	p.Glu231X	Nonsense	No	Het
28a	LGMD2B	30 (7)			51	del5698-5699delGA	p.Glu1899fsX15	Deletion	Yes	Het	Quick runner, good at football
28b	LGMD2B	25 (2)			51	del5698-5699delAG	p.(Ser1900fsX14)	Deletion	No	Het	Markedly sporty at school
29	LGMD2B				23	c.2163-1G>T		Splice	Yes	Homo	Sporty, played basketball
30	PD	16 (0)			28	c.3031 G>C	p.Gly1011Arg	Missense	Yes	Het	Fit before onset
					8	c.855+1delG		Splice	No	Het
31	LGMD2B	23 (13)			11	c.1020C>A	p.Ser340Arg	Missense	No	Het	Fit before onset
					44	c.4883 G>T	p.Gly1628Val	Missense		Het
32	LGMD2B	20 (4)			26	c.2659 A>T	p.Lys887X	Nonsense	Yes	Het	Sporty, cross country running, dancing
					51	c.5668-7 G>A		Splice	No	Het

LGMD, limb girdle muscular dystrophy; MM, Miyoshi myopathy; PD, proximodistal.

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New aspects on patients affected by dysferlin deficient muscular dystrophy

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