Table 1.

Families Studied with RNA-Seq

Family	Sample	Phenotype	Diagnosis	Splice Classification	Transcript levels	Allele Imbalance
4a	f; m; myo	CM	RYR1 (GenBank: NM_001042723.1) c.2862G>A (p.Pro894Pro); RYR1 c.9859C>T (p. Arg3287>Cys)	exon extension	down 2×	no
5	f; m; myosingleton	CMD	GMPPB heterozygous (GenBank: NM_013334.3) c.94C>T (p.Pro32Ser); GMPPB heterozygous, 5′ UTR variant, g.349761246 G>A, new start codon	new start codon	down 4,1×	no
6	f; m; myosingleton	CMD	POMT2 (GenBank: NM_013382.5) c.1502A>C (p.Glu501Ala) homozygous	N/A	no	yes
7a	f	CMD	LAMA2 (GenBank: NM_000426.3) c.9212–1G>A homozygous	exon extension	down 2,1×	no
8	msingleton	CM	TTN (GenBank: NM_001267550.2) c.74837_74840dupTTAG (p.Arg24947Ser∗2);TTN c.28114 +1G>A	exon extension	no	no
9a	f; m; myo	DMD	DMD g.chrX: 32,366,860 A>C dbSNP: r.5326_5327ins51bp	novel exon	down 4,8×	X-linked disorder
10a	m	CM	MTM1 (GenBanK: NM_000252.2) c.1262G>A (p.Arg421Gln)	N/A	no	X-linked disorder
12	f; m; myosingleton	CM	N/A	N/A	N/A	N/A
13	msingleton	CM	N/A	N/A	N/A	N/A
14	f; m; myo siblings	multiple pterygium syndrome	N/A	N/A	N/A	N/A
15	ftrio	MDC1A	LAMA2 (GenBank: NM_000426.3.) c.4860G>A; LAMA2 (GenBank: NM_000426.3) c.2584T>C (p.Cys862Arg)	exon skipping	down 2×	yes
16	f; myosingleton	restrictive cardiomyopathy	N/A	N/A	N/A	N/A
17	f; m; myosingleton	Pompe	GAA (NM_000152.5) c.−32–13T>G (intron 1); GAA c.1927G>A (p.Gly643Arg)	splice polypyrimidine tract variant	down 2×	yes
18	f; m; myosingleton	CMD	N/A	N/A	N/A	N/A
21	f; myosingleton	LGMD	N/A	N/A	N/A	N/A
26	f; m; myosingleton	DMD	UI for specific mutation	UI	down 7×	X-linked disorder
27	f; myosingleton	myopathy	N/A	N/A	N/A	N/A
28	f; m; myosingleton	CMD	N/A	N/A	N/A	N/A
29	fsingleton	myopathy	N/A	N/A	N/A	N/A
30	f; myosingleton	CMD	N/A	N/A	N/A	N/A
31	msingleton	arthrogryposis multiplex congenita	N/A	N/A	N/A	N/A
32	msingleton	CM	N/A	N/A	N/A	N/A
33	msingleton	distal myopathy	N/A	N/A	N/A	N/A
34	msingleton	DMD	DMD X: 33192302–33192451; UI for point mutation	novel exon	down 3,8×	X-linked disorder
35	msingleton	DMD	DMD (GenBank: NM_000109.3); c.93+1G>C exon 2	exon extension	down 18,5x	X-linked disorder
36	msingleton	muscular dystrophy	N/A	N/A	N/A	N/A
38	msingleton	LGMD	DYSF (GenBank: NM_003494.3) c.4060_4062del (p.Ser1354del); UI for second mutation	novel exon	no	no
39	mproband & father	muscular dystrophy	N/A	N/A	N/A	N/A
40	f; m; myosiblings	recurrentrhabdomyolysis	N/A	N/A	N/A	N/A

Abbreviations are as follows: Myo = myotubes; UI = under investigation; CM = congenital myopathy; CMD = congenital muscular dystrophy; LGMD = limb girdle muscle dystrophy; DMD = Duchenne muscular dystrophy; MDC1A = congenital muscular dystrophy 1A; m = male; and f = female. An extended version of the table is available in the Supplemental Data (Table S1).

^aControl samples.